Variant #0000470938 (NC_000001.10:g.[97997390_98113120inv;97997386_97997389del], DPYD(NM_000110.3):c.[850+31531_1525-15893inv;1525-15892_1525-15889del])

Individual ID 00228665
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.[97997390_98113120inv;97997386_97997389del]
DNA change (hg38) -
Published as g.[98113121_97997390inv;97997386_97997389del]
ISCN -
DB-ID DPYD_000030 See all 2 reported entries
Variant remarks -
Reference PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DPYD NM_000110.3 +/. 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.spl p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000229755 DNA;RNA RT-PCR;SEQ - - DPYD 20 Johan den Dunnen