Annotation Detail
Information
- Associated Genes
- UGT1A UGT1A10 UGT1A8 UGT1A7 UGT1A9
- Associated Variants
-
UGT1A9 c.855+9539_855+9540delinsAA, UGT1A7 p.Arg131Lys (p.R131K), UGT1A8 c.855+63766_855+63767delinsAA, UGT1A10 c.855+44951_855+44952delinsAA
(
ENST00000344644.10,
ENST00000373445.1,
ENST00000373450.5,
ENST00000373426.4,
ENST00000354728.5 )
UGT1A9 c.855+9539_855+9540delinsAA, UGT1A7 p.Arg131Lys (p.R131K), UGT1A8 c.855+63766_855+63767delinsAA, UGT1A10 c.855+44951_855+44952delinsAA ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_019076.5(UGT1A8):c.855+63766_855+63767delinsAA AND not provided
- ClinVar Allele ID
- 981396
- ClinVar RefSeq Alternation Syntax
- NM_019077.3:c.391_392delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_019075.4:c.855+44951_855+44952delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_021027.3:c.855+9539_855+9540delinsAA
- ClinVar RefSeq Alternation Syntax
- NM_019076.5:c.855+63766_855+63767delinsAA
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001812622
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs