ClinVar

NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)

Gene:

MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

• Chr11: 95845106 (on Assembly GRCh38)
• Chr11: 95578270 (on Assembly GRCh37)

Preferred name:

NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)

Other names:

p.T411T:ACG>ACA

HGVS:

• NC_000011.10:g.95845106C>T
• NG_008333.1:g.84102G>A
• NM_001243571.2:c.1017G>A
• NM_003912.1:c.1233G>A
• NM_016156.6:c.1233G>AMANE SELECT
• NM_201278.3:c.1017G>A
• NM_201281.3:c.1017G>A
• NP_001230500.1:p.Thr339=
• NP_057240.3:p.Thr411=
• NP_057240.3:p.Thr411=
• NP_958435.1:p.Thr339=
• NP_958438.1:p.Thr339=
• LRG_257t1:c.1233G>A
• LRG_257:g.84102G>A
• LRG_257p1:p.Thr411=
• NC_000011.9:g.95578270C>T
• NM_016156.5:c.1233G>A
• p.Thr411Thr

This HGVS expression did not pass validation

Links:

dbSNP: rs113897932

NCBI 1000 Genomes Browser:

rs113897932

Molecular consequence:

• NM_001243571.2:c.1017G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016156.6:c.1233G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201278.3:c.1017G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201281.3:c.1017G>A - synonymous variant - [Sequence Ontology: SO:0001819]