Variant (rsID / SNP)

rs1801287

rs1801287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS1. Location: chromosome 10, position 100,190,920. Clinical significance in the table: Benign.

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Reference-table entries

HPS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:100190920
Cytoband: 10q24.2
HGVS: NM_000195.5(HPS1):c.636C>T (p.Leu212=)
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.