Variant #0000037531 (NC_000001.10:g.98348908C>T, DPYD(NM_000110.3):c.62G>A)

Individual ID 00017584
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.98348908C>T
DNA change (hg38) g.97883352C>T
Published as G62A (R21Q)
ISCN -
DB-ID DPYD_000014
Variant remarks reference haplotype DPYD*12 [62G>A; 1156G>T]
Reference PubMed: Mattison 2002
ClinVar ID -
dbSNP ID rs80081766
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-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 +?/. 2 c.62G>A r.62g>a p.Arg21Gln 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