Variant #0000002822 (NC_000002.12:g.233760498G>A, NM_000463.2:c.211G>A (UGT1A1))

Individual ID 00000660
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 Surini Yusoff et al.(2005)
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 2021-05-31 16:39:25 +08:00 (CST)
Date last edited 2021-08-01 13:00:22 +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 +/. 1 c.211G>A G71R r.(?) p.(Gly71Arg) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000727 DNA DHPLC;PCR UGT1A1 1 Nur Aisyah Athirah