V37M (p.Val37Met) variant of GJB1 (Gap junction beta-1 protein)
V37M (p.Val37Met) 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.
V37M (p.Val37Met) variant details
- p.Val37Met
- rs1057518946
- ClinGen CA413500955
- ClinVar RCV000789218
- Ensembl rs1057518946
- 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: Diverse trafficking abnormalities of connexin32 mutants causing CMTX. (PMID 12460545)
- Cited in: Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. (PMID 9856562)