D126E (p.Asp126Glu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
D126E (p.Asp126Glu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
D126E (p.Asp126Glu) variant details
- p.Asp126Glu
- rs768111524
- ClinGen CA359031365
- ClinVar RCV001910088
- ExAC rs768111524
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available