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Variant (rsID / SNP)

rs76722191

IDUA

rs76722191 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 995,942. Clinical significance in the table: Benign/Likely benign; other.

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Reference-table entries

IDUABenign
Clinical significance (as recorded)
Benign/Likely benign; other
Variant type
single nucleotide variant
Chromosome / position
4:995942
Cytoband
4p16.3
HGVS
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)
Allele change
Missense_V322E

Associated conditions / phenotypes

Mucopolysaccharidosis type 1|Hurler syndrome

Public references

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