C153W (p.Cys153Trp) variant of FHL1 (Q13642)
C153W (p.Cys153Trp) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked myopathy with postural muscle atrophy. The record also includes published literature and structural context.
C153W (p.Cys153Trp) variant details
- p.Cys153Trp
- rs752839497
- ClinGen CA414608576
- ClinVar RCV003513700
- Pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- ClinVar: Pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in RBMX1B)
- UniProt: Pathogenic (in RBMX1B)
- Structural context available
- 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)