Y7C (p.Tyr7Cys) variant of GJB1 (Gap junction beta-1 protein)
Y7C (p.Tyr7Cys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- rs1602348554
- ClinGen CA413499374
- ClinVar RCV000789289
- Ensembl rs1602348554
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of… (PMID 11438991)
- Cited in: Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. (PMID 8807343)