Y160C (p.Tyr160Cys) variant of GJB1 (Gap junction beta-1 protein)
Y160C (p.Tyr160Cys) 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 not provided; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
Y160C (p.Tyr160Cys) variant details
- p.Tyr160Cys
- rs1602349451
- ClinGen CA413502696
- ClinVar RCV000789805
- ClinVar RCV000991854
- Likely pathogenic
- not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Likely pathogenic (not provided; Charcot-Marie-Tooth Neuropathy X)
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)