NM_007294.4(BRCA1):c.213-11T>G AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Nov 10, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000074570.27

Allele description [Variation Report for NM_007294.4(BRCA1):c.213-11T>G]

NM_007294.4(BRCA1):c.213-11T>G

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.213-11T>G

Other names:

IVS4-11 T>G

HGVS:

NC_000017.11:g.43104967A>C
NG_005905.2:g.113017T>G
NM_001407571.1:c.3-11T>G
NM_001407581.1:c.213-11T>G
NM_001407582.1:c.213-11T>G
NM_001407583.1:c.213-11T>G
NM_001407585.1:c.213-11T>G
NM_001407587.1:c.213-11T>G
NM_001407590.1:c.213-11T>G
NM_001407591.1:c.213-11T>G
NM_001407593.1:c.213-11T>G
NM_001407594.1:c.213-11T>G
NM_001407596.1:c.213-11T>G
NM_001407597.1:c.213-11T>G
NM_001407598.1:c.213-11T>G
NM_001407602.1:c.213-11T>G
NM_001407603.1:c.213-11T>G
NM_001407605.1:c.213-11T>G
NM_001407610.1:c.213-11T>G
NM_001407611.1:c.213-11T>G
NM_001407612.1:c.213-11T>G
NM_001407613.1:c.213-11T>G
NM_001407614.1:c.213-11T>G
NM_001407615.1:c.213-11T>G
NM_001407616.1:c.213-11T>G
NM_001407617.1:c.213-11T>G
NM_001407618.1:c.213-11T>G
NM_001407619.1:c.213-11T>G
NM_001407620.1:c.213-11T>G
NM_001407621.1:c.213-11T>G
NM_001407622.1:c.213-11T>G
NM_001407623.1:c.213-11T>G
NM_001407624.1:c.213-11T>G
NM_001407625.1:c.213-11T>G
NM_001407626.1:c.213-11T>G
NM_001407627.1:c.213-11T>G
NM_001407628.1:c.213-11T>G
NM_001407629.1:c.213-11T>G
NM_001407630.1:c.213-11T>G
NM_001407631.1:c.213-11T>G
NM_001407632.1:c.213-11T>G
NM_001407633.1:c.213-11T>G
NM_001407634.1:c.213-11T>G
NM_001407635.1:c.213-11T>G
NM_001407636.1:c.213-11T>G
NM_001407637.1:c.213-11T>G
NM_001407638.1:c.213-11T>G
NM_001407639.1:c.213-11T>G
NM_001407640.1:c.213-11T>G
NM_001407641.1:c.213-11T>G
NM_001407642.1:c.213-11T>G
NM_001407644.1:c.213-11T>G
NM_001407645.1:c.213-11T>G
NM_001407646.1:c.213-11T>G
NM_001407647.1:c.213-11T>G
NM_001407648.1:c.213-11T>G
NM_001407649.1:c.213-11T>G
NM_001407652.1:c.213-11T>G
NM_001407653.1:c.135-11T>G
NM_001407654.1:c.135-11T>G
NM_001407655.1:c.135-11T>G
NM_001407656.1:c.135-11T>G
NM_001407657.1:c.135-11T>G
NM_001407658.1:c.135-11T>G
NM_001407659.1:c.135-11T>G
NM_001407660.1:c.135-11T>G
NM_001407661.1:c.135-11T>G
NM_001407662.1:c.135-11T>G
NM_001407663.1:c.135-11T>G
NM_001407664.1:c.213-11T>G
NM_001407665.1:c.213-11T>G
NM_001407666.1:c.213-11T>G
NM_001407667.1:c.213-11T>G
NM_001407668.1:c.213-11T>G
NM_001407669.1:c.213-11T>G
NM_001407670.1:c.213-11T>G
NM_001407671.1:c.213-11T>G
NM_001407672.1:c.213-11T>G
NM_001407673.1:c.213-11T>G
NM_001407674.1:c.213-11T>G
NM_001407675.1:c.213-11T>G
NM_001407676.1:c.213-11T>G
NM_001407677.1:c.213-11T>G
NM_001407678.1:c.213-11T>G
NM_001407679.1:c.213-11T>G
NM_001407680.1:c.213-11T>G
NM_001407681.1:c.213-11T>G
NM_001407682.1:c.213-11T>G
NM_001407683.1:c.213-11T>G
NM_001407684.1:c.213-11T>G
NM_001407685.1:c.213-11T>G
NM_001407686.1:c.213-11T>G
NM_001407687.1:c.213-11T>G
NM_001407688.1:c.213-11T>G
NM_001407689.1:c.213-11T>G
NM_001407690.1:c.213-11T>G
NM_001407691.1:c.213-11T>G
NM_001407692.1:c.72-11T>G
NM_001407694.1:c.72-11T>G
NM_001407695.1:c.72-11T>G
NM_001407696.1:c.72-11T>G
NM_001407697.1:c.72-11T>G
NM_001407698.1:c.72-11T>G
NM_001407724.1:c.72-11T>G
NM_001407725.1:c.72-11T>G
NM_001407726.1:c.72-11T>G
NM_001407727.1:c.72-11T>G
NM_001407728.1:c.72-11T>G
NM_001407729.1:c.72-11T>G
NM_001407730.1:c.72-11T>G
NM_001407731.1:c.72-11T>G
NM_001407732.1:c.72-11T>G
NM_001407733.1:c.72-11T>G
NM_001407734.1:c.72-11T>G
NM_001407735.1:c.72-11T>G
NM_001407736.1:c.72-11T>G
NM_001407737.1:c.72-11T>G
NM_001407738.1:c.72-11T>G
NM_001407739.1:c.72-11T>G
NM_001407740.1:c.72-11T>G
NM_001407741.1:c.72-11T>G
NM_001407742.1:c.72-11T>G
NM_001407743.1:c.72-11T>G
NM_001407744.1:c.72-11T>G
NM_001407745.1:c.72-11T>G
NM_001407746.1:c.72-11T>G
NM_001407747.1:c.72-11T>G
NM_001407748.1:c.72-11T>G
NM_001407749.1:c.72-11T>G
NM_001407750.1:c.72-11T>G
NM_001407751.1:c.72-11T>G
NM_001407752.1:c.72-11T>G
NM_001407838.1:c.72-11T>G
NM_001407839.1:c.72-11T>G
NM_001407841.1:c.72-11T>G
NM_001407842.1:c.72-11T>G
NM_001407843.1:c.72-11T>G
NM_001407844.1:c.72-11T>G
NM_001407845.1:c.72-11T>G
NM_001407846.1:c.72-11T>G
NM_001407847.1:c.72-11T>G
NM_001407848.1:c.72-11T>G
NM_001407849.1:c.72-11T>G
NM_001407850.1:c.72-11T>G
NM_001407851.1:c.72-11T>G
NM_001407852.1:c.72-11T>G
NM_001407853.1:c.3-11T>G
NM_001407854.1:c.213-11T>G
NM_001407858.1:c.213-11T>G
NM_001407859.1:c.213-11T>G
NM_001407860.1:c.213-11T>G
NM_001407861.1:c.213-11T>G
NM_001407862.1:c.135-11T>G
NM_001407863.1:c.213-11T>G
NM_001407874.1:c.135-11T>G
NM_001407875.1:c.135-11T>G
NM_001407879.1:c.3-11T>G
NM_001407881.1:c.3-11T>G
NM_001407882.1:c.3-11T>G
NM_001407884.1:c.3-11T>G
NM_001407885.1:c.3-11T>G
NM_001407886.1:c.3-11T>G
NM_001407887.1:c.3-11T>G
NM_001407889.1:c.3-11T>G
NM_001407894.1:c.3-11T>G
NM_001407895.1:c.3-11T>G
NM_001407896.1:c.3-11T>G
NM_001407897.1:c.3-11T>G
NM_001407898.1:c.3-11T>G
NM_001407899.1:c.3-11T>G
NM_001407900.1:c.3-11T>G
NM_001407902.1:c.3-11T>G
NM_001407904.1:c.3-11T>G
NM_001407906.1:c.3-11T>G
NM_001407907.1:c.3-11T>G
NM_001407908.1:c.3-11T>G
NM_001407909.1:c.3-11T>G
NM_001407910.1:c.3-11T>G
NM_001407915.1:c.3-11T>G
NM_001407916.1:c.3-11T>G
NM_001407917.1:c.3-11T>G
NM_001407918.1:c.3-11T>G
NM_001407919.1:c.213-11T>G
NM_001407920.1:c.72-11T>G
NM_001407921.1:c.72-11T>G
NM_001407922.1:c.72-11T>G
NM_001407923.1:c.72-11T>G
NM_001407924.1:c.72-11T>G
NM_001407925.1:c.72-11T>G
NM_001407926.1:c.72-11T>G
NM_001407927.1:c.72-11T>G
NM_001407928.1:c.72-11T>G
NM_001407929.1:c.72-11T>G
NM_001407930.1:c.72-11T>G
NM_001407931.1:c.72-11T>G
NM_001407932.1:c.72-11T>G
NM_001407933.1:c.72-11T>G
NM_001407934.1:c.72-11T>G
NM_001407935.1:c.72-11T>G
NM_001407936.1:c.72-11T>G
NM_001407937.1:c.213-11T>G
NM_001407938.1:c.213-11T>G
NM_001407939.1:c.213-11T>G
NM_001407940.1:c.213-11T>G
NM_001407941.1:c.213-11T>G
NM_001407942.1:c.72-11T>G
NM_001407943.1:c.72-11T>G
NM_001407944.1:c.72-11T>G
NM_001407945.1:c.72-11T>G
NM_001407946.1:c.3-11T>G
NM_001407947.1:c.3-11T>G
NM_001407948.1:c.3-11T>G
NM_001407949.1:c.3-11T>G
NM_001407950.1:c.3-11T>G
NM_001407951.1:c.3-11T>G
NM_001407952.1:c.3-11T>G
NM_001407953.1:c.3-11T>G
NM_001407954.1:c.3-11T>G
NM_001407955.1:c.3-11T>G
NM_001407956.1:c.3-11T>G
NM_001407957.1:c.3-11T>G
NM_001407958.1:c.3-11T>G
NM_001407959.1:c.-169-11T>G
NM_001407960.1:c.-169-11T>G
NM_001407962.1:c.-169-11T>G
NM_001407963.1:c.-169-11T>G
NM_001407964.1:c.72-11T>G
NM_001407965.1:c.-169-11T>G
NM_001407966.1:c.-218-10107T>G
NM_001407967.1:c.-218-10107T>G
NM_001407968.1:c.213-11T>G
NM_001407969.1:c.213-11T>G
NM_001407970.1:c.213-11T>G
NM_001407971.1:c.213-11T>G
NM_001407972.1:c.213-11T>G
NM_001407973.1:c.213-11T>G
NM_001407974.1:c.213-11T>G
NM_001407975.1:c.213-11T>G
NM_001407976.1:c.213-11T>G
NM_001407977.1:c.213-11T>G
NM_001407978.1:c.213-11T>G
NM_001407979.1:c.213-11T>G
NM_001407980.1:c.213-11T>G
NM_001407981.1:c.213-11T>G
NM_001407982.1:c.213-11T>G
NM_001407983.1:c.213-11T>G
NM_001407984.1:c.213-11T>G
NM_001407985.1:c.213-11T>G
NM_001407986.1:c.213-11T>G
NM_001407990.1:c.213-11T>G
NM_001407991.1:c.213-11T>G
NM_001407992.1:c.213-11T>G
NM_001407993.1:c.213-11T>G
NM_001408392.1:c.213-11T>G
NM_001408396.1:c.213-11T>G
NM_001408397.1:c.213-11T>G
NM_001408398.1:c.213-11T>G
NM_001408399.1:c.213-11T>G
NM_001408400.1:c.213-11T>G
NM_001408401.1:c.213-11T>G
NM_001408402.1:c.213-11T>G
NM_001408403.1:c.213-11T>G
NM_001408404.1:c.213-11T>G
NM_001408406.1:c.213-11T>G
NM_001408407.1:c.213-11T>G
NM_001408408.1:c.213-11T>G
NM_001408409.1:c.135-11T>G
NM_001408410.1:c.72-11T>G
NM_001408411.1:c.135-11T>G
NM_001408412.1:c.135-11T>G
NM_001408413.1:c.135-11T>G
NM_001408414.1:c.135-11T>G
NM_001408415.1:c.135-11T>G
NM_001408416.1:c.135-11T>G
NM_001408418.1:c.213-11T>G
NM_001408419.1:c.213-11T>G
NM_001408420.1:c.213-11T>G
NM_001408421.1:c.213-11T>G
NM_001408422.1:c.213-11T>G
NM_001408423.1:c.213-11T>G
NM_001408424.1:c.213-11T>G
NM_001408425.1:c.213-11T>G
NM_001408426.1:c.213-11T>G
NM_001408427.1:c.213-11T>G
NM_001408428.1:c.213-11T>G
NM_001408429.1:c.213-11T>G
NM_001408430.1:c.213-11T>G
NM_001408431.1:c.213-11T>G
NM_001408432.1:c.213-11T>G
NM_001408433.1:c.213-11T>G
NM_001408434.1:c.213-11T>G
NM_001408435.1:c.213-11T>G
NM_001408436.1:c.213-11T>G
NM_001408437.1:c.213-11T>G
NM_001408438.1:c.213-11T>G
NM_001408439.1:c.213-11T>G
NM_001408440.1:c.213-11T>G
NM_001408441.1:c.213-11T>G
NM_001408442.1:c.213-11T>G
NM_001408443.1:c.213-11T>G
NM_001408444.1:c.213-11T>G
NM_001408445.1:c.213-11T>G
NM_001408446.1:c.213-11T>G
NM_001408447.1:c.213-11T>G
NM_001408448.1:c.213-11T>G
NM_001408450.1:c.213-11T>G
NM_001408451.1:c.81-11T>G
NM_001408452.1:c.72-11T>G
NM_001408453.1:c.72-11T>G
NM_001408454.1:c.72-11T>G
NM_001408455.1:c.72-11T>G
NM_001408456.1:c.72-11T>G
NM_001408457.1:c.72-11T>G
NM_001408458.1:c.72-11T>G
NM_001408459.1:c.72-11T>G
NM_001408460.1:c.72-11T>G
NM_001408461.1:c.72-11T>G
NM_001408462.1:c.72-11T>G
NM_001408463.1:c.72-11T>G
NM_001408464.1:c.72-11T>G
NM_001408465.1:c.72-11T>G
NM_001408466.1:c.72-11T>G
NM_001408467.1:c.72-11T>G
NM_001408468.1:c.72-11T>G
NM_001408469.1:c.72-11T>G
NM_001408470.1:c.72-11T>G
NM_001408472.1:c.213-11T>G
NM_001408473.1:c.213-11T>G
NM_001408474.1:c.135-11T>G
NM_001408475.1:c.135-11T>G
NM_001408476.1:c.135-11T>G
NM_001408478.1:c.3-11T>G
NM_001408479.1:c.3-11T>G
NM_001408480.1:c.3-11T>G
NM_001408481.1:c.3-11T>G
NM_001408482.1:c.3-11T>G
NM_001408483.1:c.3-11T>G
NM_001408484.1:c.3-11T>G
NM_001408485.1:c.3-11T>G
NM_001408489.1:c.3-11T>G
NM_001408490.1:c.3-11T>G
NM_001408491.1:c.3-11T>G
NM_001408492.1:c.3-11T>G
NM_001408493.1:c.3-11T>G
NM_001408494.1:c.213-11T>G
NM_001408495.1:c.213-11T>G
NM_001408496.1:c.72-11T>G
NM_001408497.1:c.72-11T>G
NM_001408498.1:c.72-11T>G
NM_001408499.1:c.72-11T>G
NM_001408500.1:c.72-11T>G
NM_001408501.1:c.72-11T>G
NM_001408502.1:c.3-11T>G
NM_001408503.1:c.72-11T>G
NM_001408504.1:c.72-11T>G
NM_001408505.1:c.72-11T>G
NM_001408506.1:c.3-11T>G
NM_001408507.1:c.3-11T>G
NM_001408508.1:c.3-11T>G
NM_001408509.1:c.3-11T>G
NM_001408510.1:c.-169-11T>G
NM_001408511.1:c.72-11T>G
NM_001408512.1:c.-169-11T>G
NM_001408513.1:c.3-11T>G
NM_001408514.1:c.3-11T>G
NM_007294.4:c.213-11T>GMANE SELECT
NM_007297.4:c.72-11T>G
NM_007298.4:c.213-11T>G
NM_007299.4:c.213-11T>G
NM_007300.4:c.213-11T>G
LRG_292t1:c.213-11T>G
LRG_292:g.113017T>G
NC_000017.10:g.41256984A>C
NM_007294.3:c.213-11T>G
NM_007299.3:c.213-11T>G
U14680.1:n.332-11T>G

Note:

NCBI staff could not confirm the published nucleotide change on current reference sequence after review of PubMed 7894493.

Nucleotide change:

IVS5-11T>G

Links:

Breast Cancer Information Core (BIC) (BRCA1): 332-11&base_change=T to G; OMIM: 113705.0004; dbSNP: rs80358061

NCBI 1000 Genomes Browser:

rs80358061

Molecular consequence:

NM_001407571.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-169-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-169-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-169-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-169-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-169-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-218-10107T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-218-10107T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.81-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.135-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-169-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-169-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.3-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.72-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.213-11T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Actinidia chinensis MYB14 (MYB14) mRNA, complete cds
Actinidia chinensis MYB14 (MYB14) mRNA, complete cds
gi|2512663789|gb|OQ091253.1|

Nucleotide
"Genetics Laboratory, UDIAT-Centre Diagnostic, Hospital Universit... (1)
"Genetics Laboratory, UDIAT-Centre Diagnostic, Hospital Universitari Parc Tauli"[submitter] AND "CNNM2"[gene]
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phage baseplate assembly protein [Actinobacillus pleuropneumoniae]
phage baseplate assembly protein [Actinobacillus pleuropneumoniae]
gi|491800175|ref|WP_005606518.1|

Protein
PubChem Substance Links for Gene (Select 25841) (84)
PubChem Substance
Taxonomy Links for Nucleotide (Select 1373868799) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108655	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 12, 2017)	germline	clinical testing	Citation Link,
SCV000296273	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (May 10, 2019)	unknown	clinical testing	PubMed (27) [See all records that cite these PMIDs] 25452441, 27062684, 25682074, 16457150, 18159056, 24728189, 22505045, 18424508, 21993507, 21702907, 18824701, 21170264, 16544996, 12112659, 7894493, 23451180, 22711857, 25525159, 30322717, 30720243, 31360904, 31447099, 31850619, 32719484, 33484353, 26467025, 26295337
SCV000602679	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Pathogenic (Nov 10, 2023)	germline	clinical testing	Citation Link,
SCV003810368	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 5, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, et al.

J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

PubMed [citation]

PMID:: 25452441
PMCID:: PMC4302212

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, Pasini B, Ripamonti CB, Colombo M, Pensotti V, Radice P, Peissel B, Manoukian S.

Eur J Intern Med. 2016 Jul;32:65-71. doi: 10.1016/j.ejim.2016.03.010. Epub 2016 Apr 6.

PubMed [citation]

PMID:: 27062684

See all PubMed Citations (28)

Details of each submission

From GeneDx, SCV000108655.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This pathogenic variant is denoted BRCA1 c.213-11T>G or IVS4-11T>G and consists of a T>G nucleotide substitution at the -11 position of intron 4 of the BRCA1 gene. This variant is also known as BRCA1 332-11T>G or BRCA1 IVS5-11T>G using alternate nomenclature. RNA and minigene assays have demonstrated that BRCA1 c.213-11T>G causes aberrant splicing through activation of a cryptic splice acceptor site, introducing a premature stop codon and leading to an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product (Bonnet 2008, Colombo 2013). This variant has been observed in multiple individuals with a personal and/or family history of breast and/or ovarian cancer, and has been shown to segregate with disease (Friedman 1994, Musolino 2005, John 2007, Colombo 2013, Song 2014, Wong-Brown 2015). We consider this variant to be pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296273.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (27)

Description

This variant has been reported in hereditary breast/ovarian cancer families in the published literature (PMIDs: 7894493 (1994), 16457150 (2005), 18159056 (2007), 21170264 (2010), 21993507 (2012), 23451180 (2013), 24728189 (2014), 25682074 (2015), and 27062684 (2016)). RNA splicing studies have shown that this variant interferes with BRCA1 mRNA splicing by activating a cryptic splice-site and causing the inclusion of 59 base pairs of intronic sequence in the BRCA1 mRNA (PMIDs: 18424508 (2008), 22505045 (2012), and 23451180 (2013). Based on the available information, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602679.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The BRCA1 c.213-11T>G variant, also known as 332-11T>G or IVS5-11T>G, is reported in the medical literature in multiple individuals and families with breast and/or ovarian cancer (Carter 2018, Friedman 1994, Yost 2019). The variant is reported as pathogenic by several sources in the ClinVar database (Variation ID: 37449). This variant is only observed on three alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. Additionally, in silico analyses and experimental evidence demonstrate this variant causes aberrant intronic splicing (Bonnet 2008, Colombo 2013). Based on available information, this variant is classified as pathogenic. References: Bonnet C et al. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J Med Genet. 2008 Jul;45(7):438-46. PMID: 18424508. Carter NJ et al. Germline pathogenic variants identified in women with ovarian tumors. Gynecol Oncol. 2018 Dec;151(3):481-488. PMID: 30322717. Colombo M et al. Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. PLoS One. 2013;8(2):e57173. PMID: 23451180. Friedman LS et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet. 1994 Dec;8(4):399-404. PMID: 7894493. Yost S et al. Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers. JNCI Cancer Spectr. 2019 Apr 19;3(2):pkz028. PMID: 31360904.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003810368.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

ClinVar

Relating variation to medicine