Variant #0000037515 (NC_000001.10:g.98205971_98205974del, DPYD(NM_000110.3):c.299_302del)

Individual ID 00017572
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.98205971_98205974del
DNA change (hg38) g.97740415_97740418del
Published as delTCAT295-298
ISCN -
DB-ID DPYD_000009 See all 2 reported entries
Variant remarks reference haplotype DPYD*7 [299_302del]
Reference PubMed: McLeod 1998
ClinVar ID -
dbSNP ID rs72549309
Origin Germline
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 +/+? 4 c.299_302del r.299_302del p.Phe100Serfs*15 DPYD*7



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017552 DNA;RNA RT-PCR;SEQ - - DPYD 1 Johan den Dunnen