V43M (p.Val43Met) variant of GJB1 (Gap junction beta-1 protein)
V43M (p.Val43Met) 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 disease X-linked dominant 1. The record also includes published literature and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs1602348804
- ClinGen CA413501026
- ClinVar RCV000789272
- ClinVar RCV003336185
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth disease X-linked dominant 1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth disease X-linked dominant 1)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience. (PMID 10586284)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)