Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Asp349Asn (p.D349N)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Asp349Asn (p.D349N) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) AND not provided
- ClinVar Allele ID
- 98531
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1045G>A
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1133G>A
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.649G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-12-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000180110
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs