Annotation Detail
Information
- Associated Genes
- UGT1A UGT1A10 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A9 UGT1A4 UGT1A1 UGT1A3
- Associated Variants
-
UGT1A6 c.862-6061C>T, UGT1A5 c.868-6061C>T, UGT1A9 c.856-6061C>T, UGT1A7 c.856-6061C>T, UGT1A4 c.868-6061C>T, UGT1A8 c.856-6061C>T, UGT1A10 c.856-6061C>T, UGT1A3 c.868-6061C>T, UGT1A1 p.Pro229Leu (p.P229L)
(
ENST00000344644.10,
ENST00000373445.1,
ENST00000373450.5,
ENST00000373426.4,
ENST00000305139.11,
ENST00000373424.5,
ENST00000406651.1,
ENST00000373414.4,
ENST00000354728.5,
ENST00000373409.8,
ENST00000305208.10,
ENST00000360418.4,
ENST00000482026.6 )
UGT1A6 c.862-6061C>T, UGT1A5 c.868-6061C>T, UGT1A9 c.856-6061C>T, UGT1A7 c.856-6061C>T, UGT1A4 c.868-6061C>T, UGT1A8 c.856-6061C>T, UGT1A10 c.856-6061C>T, UGT1A3 c.868-6061C>T, UGT1A1 p.Pro229Leu (p.P229L) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 ) - Associated Disease
- Gilbert syndrome Lucey-Driscoll syndrome Crigler-Najjar syndrome, type II Bilirubin, serum level of, quantitative trait locus 1 Crigler-Najjar syndrome type 1
- Source Database
- ClinVar
- Description
- NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) AND multiple conditions
- ClinVar Allele ID
- 1497056
- ClinVar RefSeq Alternation Syntax
- NM_019075.4:c.856-6061C>T
- ClinVar RefSeq Alternation Syntax
- NM_019076.5:c.856-6061C>T
- ClinVar RefSeq Alternation Syntax
- NM_019077.3:c.856-6061C>T
- ClinVar RefSeq Alternation Syntax
- NM_019078.2:c.868-6061C>T
- ClinVar RefSeq Alternation Syntax
- NM_007120.3:c.868-6061C>T
- ClinVar RefSeq Alternation Syntax
- NM_021027.3:c.856-6061C>T
- ClinVar RefSeq Alternation Syntax
- NM_000463.3:c.686C>T
- ClinVar RefSeq Alternation Syntax
- NM_019093.4:c.868-6061C>T
- ClinVar RefSeq Alternation Syntax
- NM_001072.4:c.862-6061C>T
- ClinVar RefSeq Alternation Syntax
- NM_205862.3:c.61-6061C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002503572
- 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