All transcript variants in gene UGT1A1

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

2 entries on 1 page. Showing entries 1 - 2.
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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.211G>A - r.(?) p.(Gly71Arg) g.234669144G>A g.233760498G>A - - UGT1A1_000001 6TA/6TA in the promoter. Phenotype : Crigler Najjar Syndrome type II PubMed: Aono S et al. 1993 - rs4148323 Germline - - - 0 - Giulia Canu
+?/. - c.211G>A likely pathogenic r.(?) p.(Gly71Arg) g.234669144G>A - UGT1A1(NM_000463.2):c.211G>A (p.(Gly71Arg)) - UGT1A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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