Variant #0000002603 (NC_000002.12:g.233760498G>A, NM_000463.2:c.211G>A (UGT1A1))

Individual ID 00000581
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.233760498G>A
Published as -
Reference Feiliang Wong et al.(2013)
DB-ID UGT1A1_000001 See all 4 reported entries
dbSNP ID rs4148323
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-04-12 11:40:45 +08:00 (CST)
Date last edited 2021-08-01 14:09:40 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
UGT1A1 NM_000463.2 +/. - c.211G>A - r.(?) p.(Gly71Arg) Pathogenic



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000641 DNA TaqMan UGT1A1 1 Nur Aisyah Athirah