N145K (p.Asn145Lys) variant of KCNB1 (Q14721)
N145K (p.Asn145Lys) 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.
N145K (p.Asn145Lys) variant details
- p.Asn145Lys
- rs2516924162
- ClinGen CA408949524
- ClinVar RCV003586510
- cosmic curated COSV65568
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance