Variant (rsID / SNP)

rs58548334

rs58548334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS1. Location: chromosome 10, position 100,202,987. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HPS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:100202987
Cytoband: 10q24.2
HGVS: NM_000195.5(HPS1):c.11T>C (p.Val4Ala)
Allele change: Silent

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.