G60A (p.Gly60Ala) variant of GJA1 (Gap junction alpha-1 protein)
G60A (p.Gly60Ala) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculodentodigital dysplasia. The record also includes structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- rs2536821290
- ClinGen CA365558127
- ClinVar RCV004555189
- Likely pathogenic
- Oculodentodigital dysplasia
- Missense
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available