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Variant (rsID / SNP)

rs13098532

CPHPS3

rs13098532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CP, HPS3. Location: chromosome 3, position 148,890,992. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:148890992
Cytoband
3q24
HGVS
NM_000096.4(CP):c.*509A>C
Allele change
Silent

Associated conditions / phenotypes

Deficiency of ferroxidase|Hermansky-Pudlak syndrome 3

Public references

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