ClinVar

NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

• Chr13: 20189548 (on Assembly GRCh38)
• Chr13: 20763687 (on Assembly GRCh37)

Preferred name:

NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)

Other names:

NM_004004.5(GJB2):c.34G>T(p.Gly12Cys); NM_004004.5(GJB2):c.34G>T; NM_004004.6(GJB2):c.34G>T

HGVS:

• NC_000013.11:g.20189548C>A
• NG_008358.1:g.8428G>T
• NM_004004.6:c.34G>TMANE SELECT
• NP_003995.2:p.Gly12Cys
• NP_003995.2:p.Gly12Cys
• LRG_1350t1:c.34G>T
• LRG_1350:g.8428G>T
• LRG_1350p1:p.Gly12Cys
• NC_000013.10:g.20763687C>A
• NM_004004.5:c.34G>T
• c.34G>T
• p.GLY12CYS

This HGVS expression did not pass validation

Protein change:

G12C

Links:

dbSNP: rs104894408

NCBI 1000 Genomes Browser:

rs104894408

Molecular consequence:

• NM_004004.6:c.34G>T - missense variant - [Sequence Ontology: SO:0001583]