Variant: rs4148323 

    present in Gene: UGT1A10;UGT1A9;UGT1A7;UGT1A3;UGT1A5;UGT1A6;UGT1A8;UGT1A1;UGT1A4
    present in Chromosome: 2
    Position on Chromosome: 233760498
    Alleles of this Variant: G/A

rs4148323 in UGT1A10;UGT1A9;UGT1A7;UGT1A3;UGT1A5;UGT1A6;UGT1A8;UGT1A1;UGT1A4 gene and Bilirubin level result PMID 23371916 2013 A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.

rs4148323 in UGT1A10;UGT1A9;UGT1A7;UGT1A3;UGT1A5;UGT1A6;UGT1A8;UGT1A1;UGT1A4 gene and Bilirubin measurement PMID 20639394 2010 The protein coding variant rs4148323, which is monomorphic in European-derived populations, may be specifically associated with serum bilirubin levels in Asians (P = 2.56 x 10(-70)).

PMID 23371916 2013 A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.

rs4148323 in UGT1A10;UGT1A9;UGT1A7;UGT1A3;UGT1A5;UGT1A6;UGT1A8;UGT1A1;UGT1A4 gene and Crigler Najjar syndrome, type 2 PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 8280139 1993 Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 23099197 2013 Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.

PMID 14550264 2003 Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II.

PMID 12402338 2002 Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 8706880 1996 A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 9639672 1998 Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.

PMID 11370628 2001 Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.

PMID 18004206 2007 UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.

PMID 9621515 1998 Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 8276413 1993 Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.

rs4148323 in UGT1A10;UGT1A9;UGT1A7;UGT1A3;UGT1A5;UGT1A6;UGT1A8;UGT1A1;UGT1A4 gene and Gilbert Disease (disorder) PMID 12139570 2002 Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.

PMID 7715297 1995 Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.

PMID 17496722 2007 Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter.

PMID 9627603 1998 Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.

PMID 11013440 2000 Several structural mutations of UGT1A1, for example, a G71R substitution, have been reported to cause mild reduction of UGT activity toward bilirubin, resulting in mild hyperbilirubinemia, consistent with Gilbert syndrome.

rs4148323 in UGT1A10;UGT1A9;UGT1A7;UGT1A3;UGT1A5;UGT1A6;UGT1A8;UGT1A1;UGT1A4 gene and Height PMID 20400458 2010 Genome-wide association of anthropometric traits in African- and African-derived populations.

rs4148323 in UGT1A10;UGT1A9;UGT1A7;UGT1A3;UGT1A5;UGT1A6;UGT1A8;UGT1A1;UGT1A4 gene and Lucey-Driscoll syndrome (disorder) PMID 11061796 2000 Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.