Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Thr366Pro (p.T366P)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Thr366Pro (p.T366P) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Hurler syndrome
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro) AND Hurler syndrome
- ClinVar Allele ID
- 26955
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.700A>C
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1096A>C
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1184A>C
- 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/RCV000012691
- ClinVar Disease
- Hurler syndrome
- Observed Origin Sample
- germline
- Pubmed
- 8328452
Drugs