Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Gly409Arg (p.G409R)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Ter654Cysext*? (p.*654Cext*?) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Gly409Arg (p.G409R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Ter654Cysext*? (p.*654Cext*?) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Hurler syndrome
- Source Database
- ClinVar
- Description
- NM_000203.3(IDUA):c.[1225G>C;1962A>T] AND Hurler syndrome
- ClinVar Allele ID
- 38456
- ClinVar Allele ID
- 26950
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1225G>C
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.2054A>T
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.829G>C
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1962A>T
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1313G>C
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.1566A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1993-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012686
- ClinVar Disease
- Hurler syndrome
- Observed Origin Sample
- germline
- Pubmed
- 8328452
Drugs