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Variant (rsID / SNP)

rs200319381

PSAP

rs200319381 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSAP. Location: chromosome 10, position 73,587,868. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PSAPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:73587868
Cytoband
10q22.1
HGVS
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)
Allele change
Missense_I208S

Associated conditions / phenotypes

Metachromatic leukodystrophy|Sphingolipid activator protein 1 deficiency

Public references

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