Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Tyr625Cys (p.Y625C)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Tyr625Cys (p.Y625C) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Hurler syndrome
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) AND Hurler syndrome
- ClinVar Allele ID
- 106588
- ClinVar RefSeq Alternation Syntax
- NM_001363576.1:c.1478A>G
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.1874A>G
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.1966A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000087088
- ClinVar Disease
- Hurler syndrome
- Observed Origin Sample
- inherited
Drugs