Gene entry
ASPA
aspartoacylase
- Chromosome
- 17
- Cytoband
- 17p13.2
- Variants (rsID)
- 20
ASPA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.2). Its official name is “aspartoacylase”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs78677072Benignsingle nucleotide variantSpongy degeneration of central nervous system
- rs199565861Conflicting interpretationssingle nucleotide variantSpongy degeneration of central nervous system
- rs780936696Conflicting interpretationssingle nucleotide variantSpongy degeneration of central nervous system|Canavan Disease, Familial Form
- rs104894552Pathogenicsingle nucleotide variantSpongy degeneration of central nervous system
- rs104894553Pathogenicsingle nucleotide variantMild Canavan disease|Spongy degeneration of central nervous system
- rs12948217Pathogenicsingle nucleotide variantSpongy degeneration of central nervous system|Canavan Disease, Familial Form
- rs28940279Pathogenicsingle nucleotide variantSpongy degeneration of central nervous system|Canavan Disease, Familial Form
- rs28940574Pathogenicsingle nucleotide variantSpongy degeneration of central nervous system|Canavan Disease, Familial Form
- rs63751297Pathogenicsingle nucleotide variantCanavan Disease, Familial Form
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.