Variant (rsID / SNP)

rs6831280

rs6831280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 996,165. Clinical significance in the table: Benign.

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Reference-table entries

IDUABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:996165
Cytoband: 4p16.3
HGVS: NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)
Allele change: Missense_A361T

Associated conditions / phenotypes

Mucopolysaccharidosis type 1|Hurler syndrome

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.