Gene entry
FHL1
four and a half LIM domains 1
- Chromosome
- X
- Cytoband
- Xq26.3
- Variants (rsID)
- 23
FHL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq26.3). Its official name is “four and a half LIM domains 1”. The reference table lists 23 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs141231353Benignsingle nucleotide variantX-linked myopathy with postural muscle atrophy
- rs869025431Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|X-linked myopathy with postural muscle atrophy
- rs122458141Pathogenicsingle nucleotide variantX-linked myopathy with postural muscle atrophy
- rs122458142Pathogenicsingle nucleotide variantMyopathy, reducing body, X-linked, early-onset, severe
- rs122458143Pathogenicsingle nucleotide variantMyopathy, reducing body, X-linked, early-onset, severe
- rs122458145Pathogenicsingle nucleotide variantMyopathy, reducing body, X-linked, childhood-onset
- rs122459146Pathogenicsingle nucleotide variantMyopathy, reducing body, X-linked, early-onset, severe|X-linked myopathy with postural muscle atrophy
- rs122459148Pathogenicsingle nucleotide variantEmery-Dreifuss muscular dystrophy 6
- rs122459149Pathogenicsingle nucleotide variantEmery-Dreifuss muscular dystrophy 6
- rs267606812Pathogenicsingle nucleotide variantMyopathy, reducing body, X-linked, early-onset, severe
- rs886044238Pathogenicsingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.