Annotation Detail
Information
- Associated Genes
- IDUA SLC26A1
- Associated Variants
-
SLC26A1 c.*975G>A, IDUA p.Gln70Ter (p.Q70*)
(
ENST00000247933.9,
ENST00000514224.2,
ENST00000361661.6,
ENST00000398516.3,
ENST00000398520.6,
ENST00000622731.4 )
SLC26A1 c.*975G>A, IDUA p.Gln70Ter (p.Q70*) ( ENST00000247933.9, ENST00000514224.2, ENST00000361661.6, ENST00000398516.3, ENST00000398520.6, ENST00000622731.4 ) - Associated Disease
- mucopolysaccharidosis
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND Mucopolysaccharidosis
- ClinVar Allele ID
- 26948
- ClinVar RefSeq Alternation Syntax
- NM_022042.4:c.*975G>A
- ClinVar RefSeq Alternation Syntax
- NM_213613.4:c.*975G>A
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.296C>T
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.208C>T
- ClinVar RefSeq Alternation Syntax
- NM_134425.4:c.576+3270G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003488336
- ClinVar Disease
- Mucopolysaccharidosis
- Observed Origin Sample
- germline
Drugs