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.529T>C - r.(?) p.(Cys177Arg) g.234669462T>C g.233760816T>C - - UGT1A1_000009 Compound heterozygote for other mutation. Phenotype: Crigler Najjar Syndrome type I. PubMed: Seppen J et al. 1994 - rs7255342 Germline - - - 0 - Giulia Canu
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