Q68R (p.Gln68Arg) variant of GJA5 (Gap junction alpha-5 protein)
Q68R (p.Gln68Arg) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 11; Atrial standstill 1. The record also includes population frequency data.
Q68R (p.Gln68Arg) variant details
- p.Gln68Arg
- rs782334211
- ClinGen CA1065808
- ClinVar RCV003030713
- ExAC rs782334211
- Uncertain significance
- Atrial fibrillation, familial, 11; Atrial standstill 1
- Missense
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 11; Atrial standstill 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available