Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Ser600Ter (p.S600*)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Ser600Ter (p.S600*) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) AND not provided
- ClinVar Allele ID
- 98543
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1799del
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.1403del
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1891del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-09-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000174452
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs