R100C (p.Arg100Cys) variant of KCNB1 (Q14721)
R100C (p.Arg100Cys) 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.
R100C (p.Arg100Cys) variant details
- p.Arg100Cys
- rs2516924317
- ClinGen CA408950365
- ClinVar RCV003984936
- NCI-TCGA Cosmic COSV6556
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance