V13L (p.Val13Leu) variant of GJB1 (Gap junction beta-1 protein)
V13L (p.Val13Leu) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMTX1. The record also includes published literature and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs104894820
- ClinGen CA255251
- ClinVar RCV000011184
- UniProt VAR 002012
- Pathogenic
- in CMTX1
- Missense
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. (PMID 7477983)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)