Variant (rsID / SNP)

rs139061260

rs139061260 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS1. Location: chromosome 10, position 100,177,984. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HPS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:100177984
Cytoband: 10q24.2
HGVS: NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
Allele change: Missense_V306I

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 1

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.