E13G (p.Glu13Gly) variant of GJA5 (Gap junction alpha-5 protein)
E13G (p.Glu13Gly) 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 not provided.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- rs1663890298
- ClinGen CA342399698
- ClinVar RCV001768296
- TOPMed rs1663890298
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance