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Variant (rsID / SNP)

rs1061134

HPS1

rs1061134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS1. Location: chromosome 10, position 100,189,252. The table records no clinical significance for this variant.

Reference-table entries

HPS1Not classified
Variant type
synonymous_variant
Chromosome / position
10:100189252
HGVS
NM_001322490.2,c.897C>T,p.Leu299Leu
Allele change
Silent

Associated conditions / phenotypes

Synonymous_L266L

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.