F32Y (p.Phe32Tyr) variant of FHL1 (Q13642)
F32Y (p.Phe32Tyr) 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.
F32Y (p.Phe32Tyr) variant details
- p.Phe32Tyr
- rs2521249242
- ClinGen CA414607722
- ClinVar RCV003624170
- 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 -0.732
- 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)