Variant #0000036985 (NC_000001.10:g.97981395T>C, DPYD(NM_000110.3):c.1627A>G)

Individual ID 00017041
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.97981395T>C
DNA change (hg38) g.97515839T>C
Published as A1627G
ISCN -
DB-ID DPYD_000001 See all 30 reported entries
Variant remarks reference haplotype DPYD*2B [1905+1G>A;1627A>G]
Reference PubMed: McLeod 1998
ClinVar ID -
dbSNP ID rs1801159
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.19681 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.1627A>G r.1627a>g p.Ile543Val DPYD*2B



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017021 DNA;RNA RT-PCR;SEQ - - DPYD 2 Johan den Dunnen