M34I (p.Met34Ile) variant of GJB1 (Gap junction beta-1 protein)
M34I (p.Met34Ile) 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.
M34I (p.Met34Ile) variant details
- p.Met34Ile
- rs1060501000
- ClinGen CA16616704
- ClinVar RCV000468413
- UniProt VAR 029903
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Diverse trafficking abnormalities of connexin32 mutants causing CMTX. (PMID 12460545)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)