Annotation Detail
Information
- Associated Genes
- UGT1A UGT1A10 UGT1A8 UGT1A9
- Associated Variants
-
UGT1A9 p.Ser141= (p.S141=), UGT1A8 c.855+53795T>G, UGT1A10 c.855+34980T>G
(
ENST00000344644.10,
ENST00000373445.1,
ENST00000373450.5,
ENST00000354728.5 )
UGT1A9 p.Ser141= (p.S141=), UGT1A8 c.855+53795T>G, UGT1A10 c.855+34980T>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000354728.5 ) - Associated Disease
- UGT1A9-related disorder
- Source Database
- ClinVar
- Description
- NM_021027.3(UGT1A9):c.423T>G (p.Ser141=) AND UGT1A9-related disorder
- ClinVar Allele ID
- 3214615
- ClinVar RefSeq Alternation Syntax
- NM_021027.3:c.423T>G
- ClinVar RefSeq Alternation Syntax
- NM_019076.5:c.855+53795T>G
- ClinVar RefSeq Alternation Syntax
- NM_019075.4:c.855+34980T>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-05-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003917374
- ClinVar Disease
- UGT1A9-related disorder
- Observed Origin Sample
- germline
Drugs