Annotation Detail

Information
Associated Genes
UGT1A UGT1A10 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A9 UGT1A4 UGT1A1 UGT1A3
Associated Variants
UGT1A6 p.Pro363Leu (p.P363L), UGT1A5 p.Pro365Leu (p.P365L), UGT1A9 p.Pro361Leu (p.P361L), UGT1A7 p.Pro361Leu (p.P361L), UGT1A4 p.Pro365Leu (p.P365L), UGT1A8 p.Pro361Leu (p.P361L), UGT1A10 p.Pro361Leu (p.P361L), UGT1A3 p.Pro365Leu (p.P365L), UGT1A1 p.Pro364Leu (p.P364L) ( ENST00000305139.11, ENST00000482026.6, ENST00000305208.10, ENST00000373450.5, ENST00000373445.1, ENST00000373426.4, ENST00000373424.5, ENST00000354728.5, ENST00000373414.4, ENST00000373409.8, ENST00000406651.1, ENST00000360418.4, ENST00000344644.10 )
UGT1A6 p.Pro363Leu (p.P363L), UGT1A5 p.Pro365Leu (p.P365L), UGT1A9 p.Pro361Leu (p.P361L), UGT1A7 p.Pro361Leu (p.P361L), UGT1A4 p.Pro365Leu (p.P365L), UGT1A8 p.Pro361Leu (p.P361L), UGT1A10 p.Pro361Leu (p.P361L), UGT1A3 p.Pro365Leu (p.P365L), UGT1A1 p.Pro364Leu (p.P364L) ( 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
Source Database
ClinVar
Description
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) AND Gilbert syndrome
ClinVar Allele ID
206952
ClinVar RefSeq Alternation Syntax
NM_021027.3:c.1082C>T
ClinVar RefSeq Alternation Syntax
NM_019093.4:c.1094C>T
ClinVar RefSeq Alternation Syntax
NM_205862.3:c.287C>T
ClinVar RefSeq Alternation Syntax
NM_000463.3:c.1091C>T
ClinVar RefSeq Alternation Syntax
NM_019077.3:c.1082C>T
ClinVar RefSeq Alternation Syntax
NM_007120.3:c.1094C>T
ClinVar RefSeq Alternation Syntax
NM_001072.4:c.1088C>T
ClinVar RefSeq Alternation Syntax
NM_019075.4:c.1082C>T
ClinVar RefSeq Alternation Syntax
NM_019078.2:c.1094C>T
ClinVar RefSeq Alternation Syntax
NM_019076.5:c.1082C>T
Clinical Significance Description
Conflicting interpretations of pathogenicity
Clinical Significance Last Update
2022-05-04
Clinical Significance Review Status
criteria provided, conflicting interpretations
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000999562
ClinVar Disease
Gilbert syndrome
Observed Origin Sample
germline
Observed Origin Sample
inherited
Drugs