S89C (p.Ser89Cys) variant of GJA5 (Gap junction alpha-5 protein)
S89C (p.Ser89Cys) 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.
S89C (p.Ser89Cys) variant details
- p.Ser89Cys
- rs2524611740
- ClinGen CA342397360
- ClinVar RCV002301979
- 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