UGT1A1

Gene name: UDP glucuronosyltransferase 1 family, polypeptide A1
OMIM ID: 191740
Chromosome location: 2q37.1

Mutations

Disease/Phenotype	Crigler-Najjar syndrome, type I
Reference transcript	NM_000463.2
DNA Change	c.1070A>G
A.A. Change	p.Q357R
Exon/Intron	exon 3
Mutation Type	deletion
Reference	Servedio V, d'Apolito M, Maiorano N, Minuti B, Torricelli F, Ronchi F, Zancan L, Perrotta S, Vajro P, Boschetto L, Iolascon A.Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. Hum Mutat. 2005 Mar;25(3):325.

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