V27A (p.Val27Ala) variant of GJB1 (Gap junction beta-1 protein)
V27A (p.Val27Ala) 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.
V27A (p.Val27Ala) variant details
- p.Val27Ala
- rs1602348686
- ClinGen CA413500812
- ClinVar RCV000789798
- Ensembl rs1602348686
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)