All transcript variants in gene UGT1A1

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

3 entries on 1 page. Showing entries 1 - 3.
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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.674T>G - r.(?) p.(Val225Gly) g.234669607T>G g.233760961T>G - - UGT1A1_000010 Compound heterozygote for c.722_723delAG and 7TA/7TA in the promoter. Phenotype: Crigler Najjar Syndrome type II PubMed: Iolascon A et al. 2000 - rs35003977 Germline - - - 0 - Giulia Canu
+/. - c.674T>G pathogenic r.(?) p.(Val225Gly) g.234669607T>G - UGT1A1(NM_000463.2):c.674T>G (p.V225G) - UGT1A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.674T>G likely pathogenic r.(?) p.(Val225Gly) g.234669607T>G - UGT1A1(NM_000463.2):c.674T>G (p.V225G) - UGT1A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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