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Variant (rsID / SNP)

rs1494961

HELQ

rs1494961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HELQ. Location: chromosome 4, position 84,374,480. The table records no clinical significance for this variant.

Reference-table entries

HELQNot classified
Variant type
missense_variant
Chromosome / position
4:84374480
HGVS
NM_133636.5,c.916G>A,p.Val306Ile
Allele change
Silent

Associated conditions / phenotypes

Missense_V269I|Missense_V306I

Public references

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