P172S (p.Pro172Ser) variant of GJB1 (Gap junction beta-1 protein)
P172S (p.Pro172Ser) 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; not provided. The record also includes population frequency data, published literature, and structural context.
P172S (p.Pro172Ser) variant details
- p.Pro172Ser
- rs104894811
- ClinGen CA255232
- ClinVar RCV000011177
- ClinVar RCV001053029
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Population evidence available
- 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)