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Variant (rsID / SNP)

rs11099592

HPSE

rs11099592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPSE. Location: chromosome 4, position 84,230,619. The table records no clinical significance for this variant.

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Reference-table entries

HPSENot classified
Variant type
missense_variant
Chromosome / position
4:84230619
HGVS
NM_001098540.3,c.920A>G,p.Lys307Arg
Allele change
Missense_K307R

Associated conditions / phenotypes

Leukemia, Chronic Myeloid|Leukemia, Acute Myeloid|Proteasome-Associated Autoinflammatory Syndrome 1|Myelodysplastic Syndrome|Leukemia, Acute Lymphoblastic|Myeloid Leukemia|Bone Disease|Gastric Cancer|Myeloma, Multiple|Homologous Wasting Disease

Public references

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