Variant #0000037517 (NC_000001.10:g.98348885G>A, DPYD(NM_000110.3):c.85C>T)

Individual ID 00017574
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.98348885G>A
DNA change (hg38) g.97883329G>A
Published as -
ISCN -
DB-ID DPYD_000011 See all 4 reported entries
Variant remarks reference haplotype DPYD*1 [85T=; 2657G=]; note the reference sequence has haplotype DPYD*9A
Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
Reference PubMed: McLeod 1998
ClinVar ID -
dbSNP ID rs1801265
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.77088 View details
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 -/- 2 c.85C>T r.85c>u p.Arg29Cys DPYD*1



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017554 DNA;RNA RT-PCR;SEQ - - DPYD 2 Johan den Dunnen