Gene entry
ARSL
arylsulfatase L
- Chromosome
- X
- Cytoband
- Xp22.33
- Variants (rsID)
- 18
ARSL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp22.33). Its official name is “arylsulfatase L”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs17325750Benignsingle nucleotide variantChondrodysplasia punctata, brachytelephalangic, autosomal
- rs145946864Conflicting interpretationssingle nucleotide variantX-linked chondrodysplasia punctata 1
- rs122460154Pathogenicsingle nucleotide variantX-linked chondrodysplasia punctata 1
- rs28935474Pathogenicsingle nucleotide variantX-linked chondrodysplasia punctata 1
- rs80338711Pathogenicsingle nucleotide variantX-linked chondrodysplasia punctata 1
- rs80338714Pathogenicsingle nucleotide variantX-linked chondrodysplasia punctata 1|See cases
- rs122460151Uncertain significancesingle nucleotide variantX-linked chondrodysplasia punctata 1
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.