present in Gene: UGT1A4;UGT1A3;UGT1A10;UGT1A6;UGT1A7;UGT1A5;UGT1A1;UGT1A8;UGT1A9
present in Chromosome: 2
Position on Chromosome: 233768259
Alleles of this Variant: C/T
PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.
PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.
PMID 7989045 1994 Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.
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 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.
PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.