Variant (rsID / SNP)
rs121965020
rs121965020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDUA, SLC26A1. Location: chromosome 4, position 981,646. Clinical significance in the table: Pathogenic.
Reference-table entries
IDUAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:981646
- Cytoband
- 4p16.3
- HGVS
- NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
- Allele change
- Silent
Associated conditions / phenotypes
Hurler syndrome|Mucopolysaccharidosis, MPS-I-H/S|Mucopolysaccharidosis, MPS-I-S|Mucopolysaccharidosis type 1|Hurler syndrome|Mucopolysaccharidosis, MPS-I-H/S|Mucopolysaccharidosis, MPS-I-S|Interstitial pneumonitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.