Variant #0000037536 (NC_000001.10:g.98348885=, DPYD(NM_000110.3):c.85C=)

Individual ID 00017587
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
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 normal enzyme activity (PBM cells)
Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
Reference PubMed: Johnson 2002
ClinVar ID -
dbSNP ID -
Origin Unknown
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DPYD NM_000110.3 -?/. 2 c.85C= r.(=) p.Arg29= DPYD*9A



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017570 DNA SEQ - - DPYD 3 Johan den Dunnen