Variant (rsID / SNP)

rs199801029

rs199801029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 996,063. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IDUAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:996063
Cytoband: 4p16.3
HGVS: NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
Allele change: Missense_A327P

Associated conditions / phenotypes

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.