Variant (rsID / SNP)

rs12582

rs12582 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HJURP. Location: chromosome 2, position 234,749,354. The table records no clinical significance for this variant.

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Reference-table entries

HJURPNot classified

Variant type: missense_variant
Chromosome / position: 2:234749354
HGVS: NM_018410.5,c.2072C>T,p.Ser691Phe
Allele change: Missense_S606F

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.