Variant #0000037521 (NC_000001.10:g.98348885G=, DPYD(NM_000110.3):c.85C=)

Individual ID 00017576
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.98348885G=
DNA change (hg38) -
Published as T85C
ISCN -
DB-ID DPYD_000000 See all 16 reported entries
Variant remarks reference haplotype DPYD*9B [85T>C; 2657G>A]; 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 -
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 +?/+? 2 c.85C= r.85c= p.Arg29= DPYD*9B



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017556 DNA;RNA RT-PCR;SEQ - - DPYD 2 Johan den Dunnen