Gene entry
ACYP1
acylphosphatase 1
- Chromosome
- 14
- Cytoband
- 14q24.3
- Variants (rsID)
- 5
ACYP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.3). Its official name is “acylphosphatase 1”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs151220873Benignsingle nucleotide variantBrain atrophy|Microcephaly|Seizure|Global developmental delay|Niemann-Pick disease, type C2
- rs140130028Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C2|Niemann-Pick disease, type C1
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.