Variant #0000037540 (NC_000001.10:g.98165091T>C, DPYD(NM_000110.3):c.496A>G)

Individual ID 00017588
Chromosome 1
Allele Paternal (confirmed)
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.98165091T>C
DNA change (hg38) g.97699535T>C
Published as M166V
ISCN -
DB-ID DPYD_000002 See all 20 reported entries
Variant remarks -
Reference PubMed: Johnson 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.08595 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 -?/. 6 c.496A>G r.(?) p.(Met166Val) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017571 DNA SEQ - - DPYD 2 Johan den Dunnen