Gene entry
PSAP
prosaposin
- Chromosome
- 10
- Cytoband
- 10q22.1
- Variants (rsID)
- 22
PSAP is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q22.1). Its official name is “prosaposin”. The reference table lists 22 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs142272618Benignsingle nucleotide variantAtypical Gaucher disease due to saposin C deficiency|Encephalopathy due to prosaposin deficiency|Krabbe disease, atypical, due to saposin A deficiency|Sphingolipid activator protein 1 deficiency|Galactosylceramide beta-galactosidase deficiency
- rs41307569Benignsingle nucleotide variantKrabbe disease, atypical, due to saposin A deficiency|Encephalopathy due to prosaposin deficiency|Sphingolipid activator protein 1 deficiency
- rs144688588Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa-deafness syndrome|Metachromatic leukodystrophy|Atypical Gaucher Disease|Galactosylceramide beta-galactosidase deficiency|Encephalopathy due to prosaposin deficiency|Nonsyndromic Hearing Loss, Recessive|Usher syndrome type 1|Usher syndrome type 1D
- rs149704197Conflicting interpretationsDeletionUsher syndrome type 1D|Metachromatic leukodystrophy|Encephalopathy due to prosaposin deficiency|Atypical Gaucher Disease|Galactosylceramide beta-galactosidase deficiency|Usher syndrome type 1
- rs16929375Conflicting interpretationssingle nucleotide variantAtypical Gaucher Disease|Nonsyndromic Hearing Loss, Recessive|Metachromatic leukodystrophy|Encephalopathy due to prosaposin deficiency|Galactosylceramide beta-galactosidase deficiency|Retinitis pigmentosa-deafness syndrome|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs200319381Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy|Sphingolipid activator protein 1 deficiency
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.