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.643A>G - r.(?) p.(Ile215Val) g.234669576A>G g.233760930A>G - - UGT1A1_000013 Compound heterozygote for c.-3279 T>G and 6TA/7TA in the promoter. Phenotype: Normal. PubMed: Rodrigues C et al. 2012 - rs144398951 Germline - - - 0 - Giulia Canu
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