V38A (p.Val38Ala) variant of GJB1 (Gap junction beta-1 protein)
V38A (p.Val38Ala) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
V38A (p.Val38Ala) variant details
- p.Val38Ala
- rs863224612
- ClinGen CA413500975
- ClinVar RCV000789237
- ClinVar RCV001856232
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)