G59R (p.Gly59Arg) variant of GJB6 (Gap junction beta-6 protein)
G59R (p.Gly59Arg) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey synd. The record also includes published literature and structural context.
G59R (p.Gly59Arg) variant details
- p.Gly59Arg
- UniProt VAR 057960
- Uncertain significance
- found in one patient with a syndrome resembling Vohwinkel and Bart-Pumphrey synd
- Missense
- EBI: Variant of uncertain significance (found in one patient with a syndrome resembling Vohwinkel and Ba)
- UniProt: Uncertain significance (found in one patient with a syndrome resembling Vohwinkel and Ba)
- Structural context available
- Cited in: Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle… (PMID 19416251)