P172A (p.Pro172Ala) variant of GJB1 (Gap junction beta-1 protein)
P172A (p.Pro172Ala) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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.
P172A (p.Pro172Ala) variant details
- p.Pro172Ala
- rs104894811
- ClinGen CA413502905
- ClinVar RCV000789217
- ClinVar RCV001706707
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. (PMID 12497641)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)