Variant (rsID / SNP)

rs121965033

rs121965033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 996,121. Clinical significance in the table: Pathogenic.

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Reference-table entries

IDUAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:996121
Cytoband: 4p16.3
HGVS: NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
Allele change: Missense_L346R

Associated conditions / phenotypes

Mucopolysaccharidosis, MPS-I-H/S|Hurler syndrome|Mucopolysaccharidosis type 1

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.