V23A (p.Val23Ala) variant of GJB1 (Gap junction beta-1 protein)
V23A (p.Val23Ala) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- rs1602348650
- ClinGen CA413500724
- ClinVar RCV000789834
- ClinVar RCV001056787
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease… (PMID 9187667)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)