Variant (rsID / SNP)

rs41307569

rs41307569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSAP. Location: chromosome 10, position 73,581,601. Clinical significance in the table: Benign.

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Reference-table entries

PSAPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:73581601
Cytoband: 10q22.1
HGVS: NM_002778.4(PSAP):c.909+32G>T
Allele change: Silent

Associated conditions / phenotypes

Krabbe disease, atypical, due to saposin A deficiency|Encephalopathy due to prosaposin deficiency|Sphingolipid activator protein 1 deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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