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Variant (rsID / SNP)

rs11934801

IDUA

rs11934801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 996,555. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IDUAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:996555
Cytoband
4p16.3
HGVS
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
Allele change
Missense_G409R

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.