Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Trp402Ter (p.W402*)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Trp402Ter (p.W402*) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Mucopolysaccharidosis type 1
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND Mucopolysaccharidosis type 1
- ClinVar Allele ID
- 26947
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1293G>A
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.809G>A
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1205G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000384297
- ClinVar Disease
- Mucopolysaccharidosis type 1
- Observed Origin Sample
- germline
Drugs