V177M (p.Val177Met) variant of GJB1 (Gap junction beta-1 protein)
V177M (p.Val177Met) 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; Charcot-Marie-Tooth disease X-linked dominant. The record also includes published literature and structural context.
V177M (p.Val177Met) variant details
- p.Val177Met
- rs1569215351
- ClinGen CA413502996
- ClinVar RCV000691854
- ClinVar RCV000789941
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-)
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)