Variant (rsID / SNP)

rs188320187

rs188320187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS1. Location: chromosome 10, position 100,195,405. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HPS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:100195405
Cytoband: 10q24.2
HGVS: NM_000195.5(HPS1):c.242A>T (p.Tyr81Phe)
Allele change: Silent

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.