R76H (p.Arg76His) variant of GJA5 (Gap junction alpha-5 protein)
R76H (p.Arg76His) 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.
R76H (p.Arg76His) variant details
- p.Arg76His
- rs2148959382
- ClinGen CA342397604
- cosmic curated COSV10808
- ClinVar RCV002010955
- 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