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.
Legend  

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.625C>T - r.(?) p.(Arg209Trp) g.234669558C>T g.233760912C>T - - UGT1A1_000012 Phenotype: Crigler Najjar Syndrome type II PubMed: Bosma PJ et al. 1994 - rs72551343 Germline - - - 0 - Giulia Canu
+/. - c.625C>T pathogenic r.(?) p.(Arg209Trp) g.234669558C>T - UGT1A1(NM_000463.2):c.625C>T (p.R209W) - UGT1A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
Legend