W3S (p.Trp3Ser) variant of GJB1 (Gap junction beta-1 protein)
W3S (p.Trp3Ser) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
W3S (p.Trp3Ser) variant details
- p.Trp3Ser
- rs1555936989
- ClinGen CA413499286
- ClinVar RCV000654850
- ClinVar RCV000789228
- Conflicting interpretations
- Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: X-linked Charcot-Marie-Tooth disease and connexin32. (PMID 10873293)
- Cited in: Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth… (PMID 8737658)