Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Pro533Arg (p.P533R)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Pro533Arg (p.P533R) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Hurler syndrome Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis, MPS-I-S
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) AND multiple conditions
- ClinVar Allele ID
- 26949
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1598C>G
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1686C>G
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.1202C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763533
- ClinVar Disease
- Hurler syndrome
- ClinVar Disease
- Mucopolysaccharidosis, MPS-I-S
- ClinVar Disease
- Mucopolysaccharidosis, MPS-I-H/S
- Observed Origin Sample
- unknown
Drugs