D34N (p.Asp34Asn) variant of STXBP1 (Syntaxin-binding protein 1)
D34N (p.Asp34Asn) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Early-infantile DEE. The record also includes structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- rs2539777985
- ClinGen CA375176189
- ClinVar RCV004763720
- ClinVar RCV006562397
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available