Variant (rsID / SNP)

rs6815946

rs6815946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 995,305. 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: 4:995305
Cytoband: 4p16.3
HGVS: NM_000203.5(IDUA):c.543T>C (p.Asn181=)
Allele change: Synonymous_N181N

Associated conditions / phenotypes

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

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.