G59E (p.Gly59Glu) variant of GJB6 (Gap junction beta-6 protein)
G59E (p.Gly59Glu) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
G59E (p.Gly59Glu) variant details
- p.Gly59Glu
- rs2137333887
- ClinGen CA387468682
- ClinVar RCV001553381
- Ensembl rs2137333887
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (found in one patient with a syndrome resembling Vohwinkel and Ba)
- UniProt: Likely pathogenic (found in one patient with a syndrome resembling Vohwinkel and Ba)
- Structural context available