V38G (p.Val38Gly) variant of GJB1 (Gap junction beta-1 protein)
V38G (p.Val38Gly) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in CMTX1. The record also includes published literature and structural context.
V38G (p.Val38Gly) variant details
- p.Val38Gly
- rs863224612
- ClinGen CA338636
- ClinVar RCV000199414
- ClinVar RCV000235965
- Likely pathogenic
- in CMTX1
- Missense
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)