Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.His539ThrfsTer21 (p.H539Tfs*21)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.His539ThrfsTer21 (p.H539Tfs*21) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Hurler syndrome
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.1614del (p.His539fs) AND Hurler syndrome
- ClinVar Allele ID
- 177778
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.1218del
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1614del
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1702del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-08-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000173986
- ClinVar Disease
- Hurler syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8213840
Drugs