Variant (rsID / SNP)

rs187833337

rs187833337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 997,829. Clinical significance in the table: Uncertain significance.

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Reference-table entries

IDUAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:997829
Cytoband: 4p16.3
HGVS: NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
Allele change: Missense_S586F

Associated conditions / phenotypes

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.