Gene entry
ASAH1
N-acylsphingosine amidohydrolase 1
- Chromosome
- 8
- Cytoband
- 8p22
- Variants (rsID)
- 19
ASAH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p22). Its official name is “N-acylsphingosine amidohydrolase 1”. The reference table lists 19 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs13263632Benignsingle nucleotide variant
- rs17515291Benignsingle nucleotide variantSpinal muscular atrophy-progressive myoclonic epilepsy syndrome|Farber lipogranulomatosis
- rs17636067Benignsingle nucleotide variantFarber lipogranulomatosis
- rs2073574Benignsingle nucleotide variantSpinal muscular atrophy-progressive myoclonic epilepsy syndrome|Farber lipogranulomatosis
- rs405308Benignsingle nucleotide variantFarber lipogranulomatosis
- rs7508Benignsingle nucleotide variantFarber lipogranulomatosis
- rs145873635Pathogenicsingle nucleotide variantSpinal muscular atrophy-progressive myoclonic epilepsy syndrome|ASAH1-related disorders
- rs150268016Uncertain significancesingle nucleotide variantFarber lipogranulomatosis|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|Farber lipogranulomatosis|Childhood epilepsy with centrotemporal spikes
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.