Annotation Detail
Information
- Associated Genes
- UGT1A UGT1A10 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A9 UGT1A4 UGT1A1 UGT1A3
- Associated Variants
-
UGT1A6 p.Tyr485Asp (p.Y485D), UGT1A5 p.Tyr487Asp (p.Y487D), UGT1A9 p.Tyr483Asp (p.Y483D), UGT1A7 p.Tyr483Asp (p.Y483D), UGT1A4 p.Tyr487Asp (p.Y487D), UGT1A8 p.Tyr483Asp (p.Y483D), UGT1A10 p.Tyr483Asp (p.Y483D), UGT1A3 p.Tyr487Asp (p.Y487D), UGT1A1 p.Tyr486Asp (p.Y486D)
(
ENST00000482026.6,
ENST00000305208.10,
ENST00000373424.5,
ENST00000373414.4,
ENST00000344644.10,
ENST00000373450.5,
ENST00000305139.11,
ENST00000373426.4,
ENST00000354728.5,
ENST00000373409.8 )
UGT1A6 p.Tyr485Asp (p.Y485D), UGT1A5 p.Tyr487Asp (p.Y487D), UGT1A9 p.Tyr483Asp (p.Y483D), UGT1A7 p.Tyr483Asp (p.Y483D), UGT1A4 p.Tyr487Asp (p.Y487D), UGT1A8 p.Tyr483Asp (p.Y483D), UGT1A10 p.Tyr483Asp (p.Y483D), UGT1A3 p.Tyr487Asp (p.Y487D), UGT1A1 p.Tyr486Asp (p.Y486D) ( ENST00000344644.10, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000482026.6 ) - Associated Disease
- Bilirubin, serum level of, quantitative trait locus 1 Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome, type II Gilbert syndrome Lucey-Driscoll syndrome
- Source Database
- ClinVar
- Description
- NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) AND multiple conditions
- ClinVar Allele ID
- 27320
- ClinVar RefSeq Alternation Syntax
- NM_007120.3:c.1459T>G
- ClinVar RefSeq Alternation Syntax
- NM_019076.5:c.1447T>G
- ClinVar RefSeq Alternation Syntax
- NM_001072.4:c.1453T>G
- ClinVar RefSeq Alternation Syntax
- NM_019075.4:c.1447T>G
- ClinVar RefSeq Alternation Syntax
- NM_019077.3:c.1447T>G
- ClinVar RefSeq Alternation Syntax
- NM_019078.2:c.1459T>G
- ClinVar RefSeq Alternation Syntax
- NM_019093.4:c.1459T>G
- ClinVar RefSeq Alternation Syntax
- NM_000463.3:c.1456T>G
- ClinVar RefSeq Alternation Syntax
- NM_205862.3:c.652T>G
- ClinVar RefSeq Alternation Syntax
- NM_021027.3:c.1447T>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763480
- ClinVar Disease
- Gilbert syndrome
- ClinVar Disease
- Crigler-Najjar syndrome type 1
- ClinVar Disease
- Lucey-Driscoll syndrome
- ClinVar Disease
- Bilirubin, serum level of, quantitative trait locus 1
- ClinVar Disease
- Crigler-Najjar syndrome, type II
- Observed Origin Sample
- unknown
Drugs