H29N (p.His29Asn) variant of FKRP (Q9H9S5)
H29N (p.His29Asn) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
H29N (p.His29Asn) variant details
- p.His29Asn
- rs886043192
- ClinGen CA406494634
- ClinVar RCV002447977
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available