G2R (p.Gly2Arg) variant of GJA5 (Gap junction alpha-5 protein)
G2R (p.Gly2Arg) 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 standstill 1; Atrial fibrillation, familial, 11.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs2148959534
- ClinGen CA342399936
- ClinVar RCV001891628
- Ensembl rs2148959534
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance