A39P (p.Ala39Pro) variant of GJB1 (Gap junction beta-1 protein)
A39P (p.Ala39Pro) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
A39P (p.Ala39Pro) variant details
- p.Ala39Pro
- rs1602348769
- ClinGen CA413500982
- ClinVar RCV000789845
- Ensembl rs1602348769
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. (PMID 9888385)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)