Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Ala327Pro (p.A327P)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Ala327Pro (p.A327P) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Mucopolysaccharidosis type 1
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) AND Mucopolysaccharidosis type 1
- ClinVar Allele ID
- 177221
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.979G>C
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.583G>C
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1067G>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000208605
- ClinVar Disease
- Mucopolysaccharidosis type 1
- Observed Origin Sample
- germline
Drugs