Variant #0000037516 (NC_000001.10:g.98157332G>A, DPYD(NM_000110.3):c.703C>T)

Individual ID 00017573
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.98157332G>A
DNA change (hg38) g.97691776G>A
Published as C703T
ISCN -
DB-ID DPYD_000010
Variant remarks reference haplotype DPYD*8 [703C>T]
Reference PubMed: McLeod 1998
ClinVar ID -
dbSNP ID rs1801266
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-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 +?/+? 7 c.703C>T r.703c>u p.Arg235Trp DPYD*8



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017553 DNA;RNA RT-PCR;SEQ - - DPYD 1 Johan den Dunnen