ClinVar

NM_004004.6(GJB2):c.1A>G (p.Met1Val)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

• Chr13: 20189581 (on Assembly GRCh38)
• Chr13: 20763720 (on Assembly GRCh37)

Preferred name:

NM_004004.6(GJB2):c.1A>G (p.Met1Val)

HGVS:

• NC_000013.11:g.20189581T>C
• NG_008358.1:g.8395A>G
• NM_004004.6:c.1A>GMANE SELECT
• NP_003995.2:p.Met1Val
• LRG_1350t1:c.1A>G
• LRG_1350:g.8395A>G
• LRG_1350p1:p.Met1Val
• NC_000013.10:g.20763720T>C
• NM_004004.5:c.1A>G
• c.1A>G
• p.Met1?

This HGVS expression did not pass validation

Protein change:

M1V

Links:

dbSNP: rs111033293

NCBI 1000 Genomes Browser:

rs111033293

Molecular consequence:

• NM_004004.6:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
• NM_004004.6:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]