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.44T>G - r.(?) p.(Leu15Arg) g.234668977T>G g.233760331T>G - - UGT1A1_000003 Phenotype: Crigler Najjar Syndrome type II PubMed: Seppen J et al.1996 - rs111033541 Germline - - - 0 - Giulia Canu
+/. - c.44T>G pathogenic r.(?) p.(Leu15Arg) g.234668977T>G - UGT1A1(NM_000463.2):c.44T>G (p.L15R) - UGT1A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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