Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA c.972+1G>A
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA c.972+1G>A ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.972+1G>A AND not provided
- ClinVar Allele ID
- 195567
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.576+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.972+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000179734
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs