A40S (p.Ala40Ser) variant of GJB1 (Gap junction beta-1 protein)
A40S (p.Ala40Ser) 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 disease X-linked dominant 1. The record also includes published literature and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- rs1602348782
- ClinGen CA413500990
- ClinVar RCV000984885
- Ensembl rs1602348782
- Likely pathogenic
- Charcot-Marie-Tooth disease X-linked dominant 1
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease X-linked dominant 1)
- 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)