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Variant (rsID / SNP)

rs142272618

PSAP

rs142272618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSAP. Location: chromosome 10, position 73,588,640. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PSAPBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:73588640
Cytoband
10q22.1
HGVS
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
Allele change
Missense_Q190H

Associated conditions / phenotypes

Atypical 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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.