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.115C>G - r.(?) p.(His39Asp) g.234669048C>G g.233760402C>G - - UGT1A1_000005 Phenotype: Crigler Najjar Syndrome type I PubMed: Kadakol A et al. 2000 - rs7255339 Germline - - - 0 - Giulia Canu
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