A51G (p.Ala51Gly) variant of GJA1 (Gap junction alpha-1 protein)
A51G (p.Ala51Gly) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oculodentodigital dysplasia, autosomal recessive. The record also includes structural context.
A51G (p.Ala51Gly) variant details
- p.Ala51Gly
- rs2536821253
- ClinGen CA365558026
- ClinVar RCV003042722
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available