Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Leu346Arg (p.L346R)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Leu346Arg (p.L346R) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Mucopolysaccharidosis type 1
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) AND Mucopolysaccharidosis type 1
- ClinVar Allele ID
- 26966
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1037T>G
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1125T>G
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.641T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-02
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001248726
- ClinVar Disease
- Mucopolysaccharidosis type 1
- Observed Origin Sample
- germline
Drugs