N33D (p.Asn33Asp) variant of FKRP (Q9H9S5)
N33D (p.Asn33Asp) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype. The record also includes structural context.
N33D (p.Asn33Asp) variant details
- p.Asn33Asp
- rs2513984856
- ClinGen CA406494661
- ClinVar RCV002825341
- ClinVar RCV004990879
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available