N414D (p.Asn414Asp) variant of KCNB1 (Q14721)
N414D (p.Asn414Asp) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Marfanoid habitus and intellectual disability.
N414D (p.Asn414Asp) variant details
- p.Asn414Asp
- rs1601071071
- ClinGen CA409014603
- ClinVar RCV000850450
- ClinVar RCV006272409
- Pathogenic/Likely pathogenic
- not provided; Marfanoid habitus and intellectual disability
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Marfanoid habitus and intellectual disability)
- EBI: Pathogenic
- UniProt: Pathogenic