Variant #0000037532 (NC_000001.10:g.98039499C>A, DPYD(NM_000110.3):c.1156G>T)

Individual ID 00017584
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.98039499C>A
DNA change (hg38) g.97573943C>A
Published as G1156T (E386X)
ISCN -
DB-ID DPYD_000015
Variant remarks reference haplotype DPYD*12 [62G>A; 1156G>T]
Reference PubMed: Mattison 2002
ClinVar ID -
dbSNP ID rs78060119
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 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.1156G>T r.1156g>u p.Glu386* DPYD*12



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017567 DNA;RNA RT-PCR;SEQ - - DPYD 2 Johan den Dunnen