V38M (p.Val38Met) variant of GJB1 (Gap junction beta-1 protein)
V38M (p.Val38Met) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- rs879254012
- ClinGen CA10584634
- ClinVar RCV000235629
- ClinVar RCV000789918
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not p)
- 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: X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32. (PMID 7833935)