D79N (p.Asp79Asn) variant of KCNB1 (Q14721)
D79N (p.Asp79Asn) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 26.
D79N (p.Asp79Asn) variant details
- p.Asp79Asn
- rs1980520006
- ClinGen CA408950854
- ClinVar RCV003587480
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance