Variant #0000037530 (NC_000001.10:g.98058899C>A, DPYD(NM_000110.3):c.1003G>T)

Individual ID 00017583
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.98058899C>A
DNA change (hg38) g.97593343C>A
Published as G1003T (V335L)
ISCN -
DB-ID DPYD_000013
Variant remarks reference haplotype DPYD*11 [1003G>T]
Reference PubMed: Mattison 2002
ClinVar ID -
dbSNP ID rs72549306
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DPYD NM_000110.3 ?/. 10 c.1003G>T r.1003g>u p.Val335Leu DPYD*11



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017566 DNA;RNA RT-PCR;SEQ - - DPYD 1 Johan den Dunnen