ClinVar

NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 71224243 (on Assembly GRCh38)
• ChrX: 70444093 (on Assembly GRCh37)

Preferred name:

NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)

HGVS:

• NC_000023.11:g.71224243G>A
• NG_008357.1:g.14032G>A
• NM_000166.6:c.536G>AMANE SELECT
• NM_001097642.3:c.536G>A
• NP_000157.1:p.Cys179Tyr
• NP_001091111.1:p.Cys179Tyr
• NP_001091111.1:p.Cys179Tyr
• LRG_245t1:c.536G>A
• LRG_245t2:c.536G>A
• LRG_245:g.14032G>A
• LRG_245p1:p.Cys179Tyr
• LRG_245p2:p.Cys179Tyr
• NC_000023.10:g.70444093G>A
• NM_000166.5:c.536G>A
• NM_001097642.2:c.536G>A

This HGVS expression did not pass validation

Protein change:

C179Y

Links:

dbSNP: rs116840822

NCBI 1000 Genomes Browser:

rs116840822

Molecular consequence:

• NM_000166.6:c.536G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001097642.3:c.536G>A - missense variant - [Sequence Ontology: SO:0001583]