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Variant (rsID / SNP)

rs147053126

HPS5

rs147053126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS5. Location: chromosome 11, position 18,332,977. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HPS5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:18332977
Cytoband
11p15.1
HGVS
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
Allele change
Silent

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 5

Public references

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