Variant #0000164277 (NC_000001.10:g.98039419C>T, DPYD(NM_000110.3):c.1236G>A)

Individual ID 00101228
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.98039419C>T
DNA change (hg38) g.97573863C>T
Published as Glu412Glu
ISCN -
DB-ID DPYD_000019 See all 12 reported entries
Variant remarks reference haplotype; decreased activity
Reference -
ClinVar ID -
dbSNP ID rs56038477
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01424 View details
Owner Johan den Dunnen
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=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101653 DNA SEQ - - DPYD 1 Johan den Dunnen