Variant (rsID / SNP)

rs281865084

rs281865084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS1. Location: chromosome 10, position 100,185,444. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HPS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 10:100185444
Cytoband: 10q24.2
HGVS: NM_000195.5(HPS1):c.1189del (p.Gln397fs)

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome

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.