V35M (p.Val35Met) variant of GJB1 (Gap junction beta-1 protein)
V35M (p.Val35Met) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
V35M (p.Val35Met) variant details
- p.Val35Met
- rs1602348735
- ClinGen CA413500937
- ClinVar RCV000789832
- ClinVar RCV001069428
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Diverse trafficking abnormalities of connexin32 mutants causing CMTX. (PMID 12460545)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)