Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A6 c.862-6536G>A, UGT1A5 c.868-6536G>A, UGT1A9 c.856-6536G>A, UGT1A7 c.856-6536G>A, UGT1A4 c.868-6536G>A, UGT1A8 c.856-6536G>A, UGT1A10 c.856-6536G>A, UGT1A3 c.868-6536G>A, UGT1A1 p.Gly71Arg (p.G71R)
(
ENST00000373450.5,
ENST00000305139.11,
ENST00000360418.4,
ENST00000344644.10,
ENST00000373409.8,
ENST00000354728.5,
ENST00000305208.10,
ENST00000482026.6,
ENST00000406651.1,
ENST00000373414.4,
ENST00000373426.4,
ENST00000373445.1,
ENST00000373424.5 )
UGT1A6 c.862-6073T>G, UGT1A5 c.868-6073T>G, UGT1A9 c.856-6073T>G, UGT1A7 c.856-6073T>G, UGT1A4 c.868-6073T>G, UGT1A8 c.856-6073T>G, UGT1A10 c.856-6073T>G, UGT1A3 c.868-6073T>G, UGT1A1 p.Val225Gly (p.V225G) ( ENST00000373445.1, ENST00000373450.5, ENST00000344644.10, ENST00000373409.8, ENST00000373426.4, ENST00000482026.6, ENST00000373414.4, ENST00000373424.5, ENST00000305139.11, ENST00000406651.1, ENST00000354728.5, ENST00000305208.10, ENST00000360418.4 )
UGT1A6 c.862-6061C>A, UGT1A5 c.868-6061C>A, UGT1A9 c.856-6061C>A, UGT1A7 c.856-6061C>A, UGT1A4 c.868-6061C>A, UGT1A8 c.856-6061C>A, UGT1A10 c.856-6061C>A, UGT1A3 c.868-6061C>A, UGT1A1 p.Pro229Gln (p.P229Q) ( ENST00000373424.5, ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, 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 )
UGT1A6 c.862-6536G>A, UGT1A5 c.868-6536G>A, UGT1A9 c.856-6536G>A, UGT1A7 c.856-6536G>A, UGT1A4 c.868-6536G>A, UGT1A8 c.856-6536G>A, UGT1A10 c.856-6536G>A, UGT1A3 c.868-6536G>A, UGT1A1 p.Gly71Arg (p.G71R) ( 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.862-6073T>G, UGT1A5 c.868-6073T>G, UGT1A9 c.856-6073T>G, UGT1A7 c.856-6073T>G, UGT1A4 c.868-6073T>G, UGT1A8 c.856-6073T>G, UGT1A10 c.856-6073T>G, UGT1A3 c.868-6073T>G, UGT1A1 p.Val225Gly (p.V225G) ( 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>A, UGT1A5 c.868-6061C>A, UGT1A9 c.856-6061C>A, UGT1A7 c.856-6061C>A, UGT1A4 c.868-6061C>A, UGT1A8 c.856-6061C>A, UGT1A10 c.856-6061C>A, UGT1A3 c.868-6061C>A, UGT1A1 p.Pro229Gln (p.P229Q) ( 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
- Crigler Najjar syndrome, type 2
- Source Database
- DisGeNET
- Description
- Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
- Pubmed
- 11013440
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.482714418720803
- Year of publication
- 2000
Drugs