G12S (p.Gly12Ser) variant of GJB1 (Gap junction beta-1 protein)
G12S (p.Gly12Ser) 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; not provided. The record also includes published literature and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs1555936999
- ClinGen CA413499462
- ClinVar RCV000552022
- ClinVar RCV000789811
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Connexin mutations in X-linked Charcot-Marie-Tooth disease. (PMID 8266101)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)