Variant #0000410632 (NC_000001.10:g.98039419C>T, DPYD(NM_000110.3):c.1236G>A)

Individual ID 00184245
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign (!)
DNA change (genomic) (Relative to hg19 / GRCh37) g.98039419C>T
DNA change (hg38) g.97573863C>T
Published as -
ISCN -
DB-ID DPYD_000019 See all 12 reported entries
Variant remarks intermediate metabolizer (activity 0.5)
Reference IP3 project, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01424 View details
Owner Jesse Swen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DPYD NM_000110.3 +/. 11 c.1236G>A r.spl? p.(Glu412=) DPYD 1236GA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185212 DNA arraySNP;PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 - 7 Jesse Swen