Variant (rsID / SNP)

rs3755954

rs3755954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 994,452. 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: 4:994452
Cytoband: 4p16.3
HGVS: NM_000203.5(IDUA):c.352C>T (p.Leu118=)
Allele change: Synonymous_L118L

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.