Variant (rsID / SNP)
rs183347428
rs183347428 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA. Location: chromosome 4, position 995,544. Clinical significance in the table: Benign; other.
Reference-table entries
IDUABenign
- Clinical significance (as recorded)
- Benign; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:995544
- Cytoband
- 4p16.3
- HGVS
- NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
- Allele change
- Missense_D223N
Associated conditions / phenotypes
Mucopolysaccharidosis type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.