Crigler-Najjar syndrome, type I
OMIM:218800Mode of inheritance:Autosomal dominant
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | UGT1A1 |
|---|---|
| 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. |