NM_002885.4(RAP1GAP):c.569G>C (p.Ser190Thr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV004438361.1
Allele description [Variation Report for NM_002885.4(RAP1GAP):c.569G>C (p.Ser190Thr)]
NM_002885.4(RAP1GAP):c.569G>C (p.Ser190Thr)
- Gene:
- RAP1GAP:RAP1 GTPase activating protein [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 1p36.12
- Genomic location:
- Preferred name:
- NM_002885.4(RAP1GAP):c.569G>C (p.Ser190Thr)
- HGVS:
- NC_000001.11:g.21612069C>G
- NG_029807.1:g.62295G>C
- NM_001145657.3:c.569G>C
- NM_001145658.3:c.761G>C
- NM_001330383.3:c.569G>C
- NM_001350524.2:c.569G>C
- NM_001350525.2:c.569G>C
- NM_001350526.2:c.569G>C
- NM_001350527.2:c.569G>C
- NM_001350528.2:c.569G>C
- NM_001388200.1:c.569G>C
- NM_001388201.1:c.569G>C
- NM_001388202.1:c.569G>C
- NM_001388203.1:c.569G>C
- NM_001388204.1:c.569G>C
- NM_001388205.1:c.569G>C
- NM_001388206.1:c.569G>C
- NM_001388207.1:c.569G>C
- NM_001388208.1:c.569G>C
- NM_001388209.1:c.569G>C
- NM_001388210.1:c.569G>C
- NM_001388211.1:c.569G>C
- NM_001388212.1:c.569G>C
- NM_001388213.1:c.569G>C
- NM_001388214.1:c.569G>C
- NM_001388215.1:c.569G>C
- NM_001388216.1:c.569G>C
- NM_001388217.1:c.569G>C
- NM_001388218.1:c.569G>C
- NM_001388219.1:c.529-253G>C
- NM_001388220.1:c.569G>C
- NM_001388221.1:c.569G>C
- NM_001388222.1:c.569G>C
- NM_001388223.1:c.569G>C
- NM_001388224.1:c.569G>C
- NM_001388225.1:c.569G>C
- NM_001388226.1:c.569G>C
- NM_001388227.1:c.569G>C
- NM_001388228.1:c.569G>C
- NM_001388229.1:c.569G>C
- NM_001388230.1:c.569G>C
- NM_001388231.1:c.542G>C
- NM_001388233.1:c.530G>C
- NM_001388234.1:c.569G>C
- NM_001388235.1:c.569G>C
- NM_001388236.1:c.569G>C
- NM_001388237.1:c.569G>C
- NM_001388238.1:c.569G>C
- NM_001388239.1:c.569G>C
- NM_001388240.1:c.569G>C
- NM_001388241.1:c.569G>C
- NM_001388242.1:c.569G>C
- NM_001388243.1:c.569G>C
- NM_001388244.1:c.529-253G>C
- NM_001388245.1:c.569G>C
- NM_001388246.1:c.569G>C
- NM_001388247.1:c.569G>C
- NM_001388248.1:c.569G>C
- NM_001388249.1:c.569G>C
- NM_001388250.1:c.569G>C
- NM_001388251.1:c.569G>C
- NM_001388252.1:c.569G>C
- NM_001388253.1:c.569G>C
- NM_001388254.1:c.569G>C
- NM_001388255.1:c.569G>C
- NM_001388256.1:c.569G>C
- NM_001388258.1:c.569G>C
- NM_001388259.1:c.569G>C
- NM_001388261.1:c.569G>C
- NM_001388263.1:c.569G>C
- NM_001388264.1:c.569G>C
- NM_001388266.1:c.569G>C
- NM_001388267.1:c.569G>C
- NM_001388269.1:c.569G>C
- NM_001388270.1:c.569G>C
- NM_001388273.1:c.569G>C
- NM_001388276.1:c.104G>C
- NM_001388279.1:c.104G>C
- NM_001388280.1:c.104G>C
- NM_001388281.1:c.104G>C
- NM_001388282.1:c.452G>C
- NM_001388283.1:c.569G>C
- NM_001388284.1:c.569G>C
- NM_001388285.1:c.569G>C
- NM_001388286.1:c.761G>C
- NM_001388287.1:c.761G>C
- NM_001388288.1:c.761G>C
- NM_001388289.1:c.761G>C
- NM_001388290.1:c.761G>C
- NM_001388291.1:c.761G>C
- NM_001388292.1:c.761G>C
- NM_001388293.1:c.761G>C
- NM_001388294.1:c.761G>C
- NM_001388295.1:c.761G>C
- NM_001388296.1:c.761G>C
- NM_002885.4:c.569G>CMANE SELECT
- NP_001139129.1:p.Ser190Thr
- NP_001139130.1:p.Ser254Thr
- NP_001317312.1:p.Ser190Thr
- NP_001337453.1:p.Ser190Thr
- NP_001337454.1:p.Ser190Thr
- NP_001337455.1:p.Ser190Thr
- NP_001337456.1:p.Ser190Thr
- NP_001337457.1:p.Ser190Thr
- NP_001375129.1:p.Ser190Thr
- NP_001375130.1:p.Ser190Thr
- NP_001375131.1:p.Ser190Thr
- NP_001375132.1:p.Ser190Thr
- NP_001375133.1:p.Ser190Thr
- NP_001375134.1:p.Ser190Thr
- NP_001375135.1:p.Ser190Thr
- NP_001375136.1:p.Ser190Thr
- NP_001375137.1:p.Ser190Thr
- NP_001375138.1:p.Ser190Thr
- NP_001375139.1:p.Ser190Thr
- NP_001375140.1:p.Ser190Thr
- NP_001375141.1:p.Ser190Thr
- NP_001375142.1:p.Ser190Thr
- NP_001375143.1:p.Ser190Thr
- NP_001375144.1:p.Ser190Thr
- NP_001375145.1:p.Ser190Thr
- NP_001375146.1:p.Ser190Thr
- NP_001375147.1:p.Ser190Thr
- NP_001375149.1:p.Ser190Thr
- NP_001375150.1:p.Ser190Thr
- NP_001375151.1:p.Ser190Thr
- NP_001375152.1:p.Ser190Thr
- NP_001375153.1:p.Ser190Thr
- NP_001375154.1:p.Ser190Thr
- NP_001375155.1:p.Ser190Thr
- NP_001375156.1:p.Ser190Thr
- NP_001375157.1:p.Ser190Thr
- NP_001375158.1:p.Ser190Thr
- NP_001375159.1:p.Ser190Thr
- NP_001375160.1:p.Ser181Thr
- NP_001375162.1:p.Ser177Thr
- NP_001375163.1:p.Ser190Thr
- NP_001375164.1:p.Ser190Thr
- NP_001375165.1:p.Ser190Thr
- NP_001375166.1:p.Ser190Thr
- NP_001375167.1:p.Ser190Thr
- NP_001375168.1:p.Ser190Thr
- NP_001375169.1:p.Ser190Thr
- NP_001375170.1:p.Ser190Thr
- NP_001375171.1:p.Ser190Thr
- NP_001375172.1:p.Ser190Thr
- NP_001375174.1:p.Ser190Thr
- NP_001375175.1:p.Ser190Thr
- NP_001375176.1:p.Ser190Thr
- NP_001375177.1:p.Ser190Thr
- NP_001375178.1:p.Ser190Thr
- NP_001375179.1:p.Ser190Thr
- NP_001375180.1:p.Ser190Thr
- NP_001375181.1:p.Ser190Thr
- NP_001375182.1:p.Ser190Thr
- NP_001375183.1:p.Ser190Thr
- NP_001375184.1:p.Ser190Thr
- NP_001375185.1:p.Ser190Thr
- NP_001375187.1:p.Ser190Thr
- NP_001375188.1:p.Ser190Thr
- NP_001375190.1:p.Ser190Thr
- NP_001375192.1:p.Ser190Thr
- NP_001375193.1:p.Ser190Thr
- NP_001375195.1:p.Ser190Thr
- NP_001375196.1:p.Ser190Thr
- NP_001375198.1:p.Ser190Thr
- NP_001375199.1:p.Ser190Thr
- NP_001375202.1:p.Ser190Thr
- NP_001375205.1:p.Ser35Thr
- NP_001375208.1:p.Ser35Thr
- NP_001375209.1:p.Ser35Thr
- NP_001375210.1:p.Ser35Thr
- NP_001375211.1:p.Ser151Thr
- NP_001375212.1:p.Ser190Thr
- NP_001375213.1:p.Ser190Thr
- NP_001375214.1:p.Ser190Thr
- NP_001375215.1:p.Ser254Thr
- NP_001375216.1:p.Ser254Thr
- NP_001375217.1:p.Ser254Thr
- NP_001375218.1:p.Ser254Thr
- NP_001375219.1:p.Ser254Thr
- NP_001375220.1:p.Ser254Thr
- NP_001375221.1:p.Ser254Thr
- NP_001375222.1:p.Ser254Thr
- NP_001375223.1:p.Ser254Thr
- NP_001375224.1:p.Ser254Thr
- NP_001375225.1:p.Ser254Thr
- NP_002876.2:p.Ser190Thr
- NC_000001.10:g.21938562C>G
- NM_001145658.1:c.761G>C
- NR_170900.1:n.821G>C
- NR_170901.1:n.821G>C
- NR_170902.1:n.821G>C
- NR_170903.1:n.928G>C
- NR_170904.1:n.821G>C
- NR_170905.1:n.1011G>C
- NR_170906.1:n.928G>C
- NR_170907.1:n.1237G>C
- NR_170908.1:n.928G>C
- NR_170909.1:n.785G>C
- NR_170910.1:n.1011G>C
- NR_170911.1:n.785G>C
- NR_170912.1:n.1011G>C
- NR_170913.1:n.904G>C
- NR_170914.1:n.928G>C
- NR_170915.1:n.785G>C
- NR_170916.1:n.825G>C
- NR_170920.1:n.928G>C
- NR_170921.1:n.821G>C
- NR_170923.1:n.837G>C
- NR_170924.1:n.837G>C
- NR_170925.1:n.1779G>C
- NR_170926.1:n.837G>C
- NR_170927.1:n.1453G>C
- NR_170928.1:n.1505G>C
- NR_170929.1:n.1237G>C
This HGVS expression did not pass validation- Protein change:
- S151T
- Molecular consequence:
- NM_001388219.1:c.529-253G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001388244.1:c.529-253G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001145657.3:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001145658.3:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001330383.3:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350524.2:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350525.2:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350526.2:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350527.2:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001350528.2:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388200.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388201.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388202.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388203.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388204.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388205.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388206.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388207.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388208.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388209.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388210.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388211.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388212.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388213.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388214.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388215.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388216.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388217.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388218.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388220.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388221.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388222.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388223.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388224.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388225.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388226.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388227.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388228.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388229.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388230.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388231.1:c.542G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388233.1:c.530G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388234.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388235.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388236.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388237.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388238.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388239.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388240.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388241.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388242.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388243.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388245.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388246.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388247.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388248.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388249.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388250.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388251.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388252.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388253.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388254.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388255.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388256.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388258.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388259.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388261.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388263.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388264.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388266.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388267.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388269.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388270.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388273.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388276.1:c.104G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388279.1:c.104G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388280.1:c.104G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388281.1:c.104G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388282.1:c.452G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388283.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388284.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388285.1:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388286.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388287.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388288.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388289.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388290.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388291.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388292.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388293.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388294.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388295.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001388296.1:c.761G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_002885.4:c.569G>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_170900.1:n.821G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170901.1:n.821G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170902.1:n.821G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170903.1:n.928G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170904.1:n.821G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170905.1:n.1011G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170906.1:n.928G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170907.1:n.1237G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170908.1:n.928G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170909.1:n.785G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170910.1:n.1011G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170911.1:n.785G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170912.1:n.1011G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170913.1:n.904G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170914.1:n.928G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170915.1:n.785G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170916.1:n.825G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170920.1:n.928G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170921.1:n.821G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170923.1:n.837G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170924.1:n.837G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170925.1:n.1779G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170926.1:n.837G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170927.1:n.1453G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170928.1:n.1505G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_170929.1:n.1237G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Rattus norvegicus ArfGAP with GTPase domain, ankyrin repeat and PH do...
PREDICTED: Rattus norvegicus ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (Agap3), transcript variant X11, mRNAgi|2678938336|ref|XM_006235943.5|Nucleotide
-
Mus musculus predicted gene, 36712 (Gm36712), mRNA
Mus musculus predicted gene, 36712 (Gm36712), mRNAgi|1680979864|ref|NM_001370901.1|Nucleotide
-
TDE_RS08245 [Treponema denticola ATCC 35405]
TDE_RS08245 [Treponema denticola ATCC 35405]Gene ID:2739180Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004936130 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Jan 31, 2024) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV004936130.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.761G>C (p.S254T) alteration is located in exon 11 (coding exon 11) of the RAP1GAP gene. This alteration results from a G to C substitution at nucleotide position 761, causing the serine (S) at amino acid position 254 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
# | 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 7, 2024