Annotation Detail
Information
- Associated Genes
- IDUA SLC26A1
- Associated Variants
-
SLC26A1 c.*917C>T, IDUA p.Arg89Gln (p.R89Q)
(
ENST00000247933.9,
ENST00000514224.2,
ENST00000361661.6,
ENST00000398516.3,
ENST00000398520.6,
ENST00000622731.4 )
SLC26A1 c.*917C>T, IDUA p.Arg89Gln (p.R89Q) ( ENST00000247933.9, ENST00000514224.2, ENST00000361661.6, ENST00000398516.3, ENST00000398520.6, ENST00000622731.4 ) - Associated Disease
- Mucopolysaccharidosis, MPS-I-H/S
- Source Database
- ClinVar
- Description
- NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) AND Mucopolysaccharidosis, MPS-I-H/S
- ClinVar Allele ID
- 26961
- ClinVar RefSeq Alternation Syntax
- NM_134425.4:c.576+3212C>T
- ClinVar RefSeq Alternation Syntax
- NM_022042.4:c.*917C>T
- ClinVar RefSeq Alternation Syntax
- NM_000203.5:c.266G>A
- ClinVar RefSeq Alternation Syntax
- NM_213613.4:c.*917C>T
- ClinVar RefSeq Alternation Syntax
- NR_110313.1:n.354G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012697
- ClinVar Disease
- Mucopolysaccharidosis, MPS-I-H/S
- Observed Origin Sample
- germline
- Pubmed
- 8213840
- Pubmed
- 8664897
Drugs