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Variant (rsID / SNP)

rs149704197

PSAP

rs149704197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSAP. Location: chromosome 10, position 73,572,382. 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
Deletion
Chromosome / position
10:73572382
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.9510+19_9510+25del

Associated conditions / phenotypes

Usher syndrome type 1D|Metachromatic leukodystrophy|Encephalopathy due to prosaposin deficiency|Atypical Gaucher Disease|Galactosylceramide beta-galactosidase deficiency|Usher syndrome type 1

Public references

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