E126G (p.Glu126Gly) variant of KCNB1 (Q14721)
E126G (p.Glu126Gly) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNB1-related disorder.
E126G (p.Glu126Gly) variant details
- p.Glu126Gly
- rs2516924216
- ClinGen CA408949862
- ClinVar RCV004528693
- Uncertain significance
- KCNB1-related disorder
- Missense
- ClinVar: Uncertain significance (KCNB1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance