Variant #0000037514 (NC_000001.10:g.97981421C>T, DPYD(NM_000110.3):c.1601G>A)

Individual ID 00017571
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.97981421C>T
DNA change (hg38) g.97515865C>T
Published as G1601A
ISCN -
DB-ID DPYD_000003 See all 9 reported entries
Variant remarks reference haplotype DPYD*4 [1601G>A]
Reference PubMed: McLeod 1998
ClinVar ID -
dbSNP ID rs1801158
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01459 View details
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 -/- 13 c.1601G>A r.1601g>a p.Ser534Asn DPYD*4



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017551 DNA;RNA RT-PCR;SEQ - - DPYD 1 Johan den Dunnen