Variant (rsID / SNP)

rs121908385

rs121908385 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS1. Location: chromosome 10, position 100,177,428. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HPS1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:100177428
Cytoband: 10q24.2
HGVS: NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)
Allele change: Nonsense_E342X

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.