C52R (p.Cys52Arg) variant of FLNC (Filamin-C)
C52R (p.Cys52Arg) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po. The record also includes structural context.
C52R (p.Cys52Arg) variant details
- p.Cys52Arg
- TOPMed rs1807854499
- Uncertain significance
- Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal)
- UniProt: Uncertain significance
- Structural context available