Variant (rsID / SNP)
rs121965021
rs121965021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 997,206. Clinical significance in the table: Pathogenic.
Reference-table entries
IDUAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:997206
- Cytoband
- 4p16.3
- HGVS
- NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
- Allele change
- Missense_P533R
Associated conditions / phenotypes
Hurler syndrome|Mucopolysaccharidosis type 1|Hurler syndrome|Mucopolysaccharidosis, MPS-I-H/S|Mucopolysaccharidosis, MPS-I-S|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.