G12D (p.Gly12Asp) variant of GJB1 (Gap junction beta-1 protein)
G12D (p.Gly12Asp) 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.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs1569214985
- ClinGen CA413499465
- ClinVar RCV000685646
- Ensembl rs1569214985
- 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: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)