Variant (rsID / SNP)
rs34533614
rs34533614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS1. Location: chromosome 10, position 100,189,242. The table records no clinical significance for this variant.
Reference-table entries
HPS1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 10:100189242
- HGVS
- NM_001322490.2,c.907C>T,p.Pro303Ser
- Allele change
- Silent
Associated conditions / phenotypes
Missense_P270S
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.