Variant #0000037547 (NC_000001.10:g.98348885=, DPYD(NM_000110.3):c.85C=)

Individual ID 00017593
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.98348885=
DNA change (hg38) -
Published as T85C
ISCN -
DB-ID DPYD_000000 See all 16 reported entries
Variant remarks Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
Reference PubMed: Vreken 1997
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
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= -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017576 DNA;RNA RT-PCR;SEQ - - DPYD 2 Johan den Dunnen