C31R (p.Cys31Arg) variant of FHL1 (Q13642)
C31R (p.Cys31Arg) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked myopathy with postural muscle atrophy. The record also includes experimental measurements, published literature, and structural context.
C31R (p.Cys31Arg) variant details
- p.Cys31Arg
- rs2521249141
- ClinGen CA414607712
- ClinVar RCV002304040
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.269
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)