All transcript variants in gene UGT1A1

Information The variants shown are described using the NM_000463.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 c.101C>A - r.(?) p.(Pro34Gln) g.234669034C>A g.233760388C>A - - UGT1A1_000004 Compund heterozygote for c.1207 C>T. Phenotype: Crigler Najjar Syndrome type II and 6TA/6TA in the promoter PubMed: Servedio V et al.2005 - - Germline - - - 0 - Giulia Canu
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