Variant #0000079452 (NC_000001.10:g.97000749_99813665del, DPYD(NM_000110.3):c.-1427187_*543783del)

Individual ID 00050527
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.97000749_99813665del
DNA change (hg38) g.96535193_99348109del
Published as -
ISCN -
DB-ID DPYD_000018
Variant remarks decreased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
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 ./. - c.-1427187_*543783del r.? p.? -
SNX7 NM_015976.4 ./. - c.-2126539_*587978del r.? p.? -
PTBP2 NM_021190.2 ./. - c.-186672_*2534704del r.? p.? -
MIR137 NR_029679.1 ./. - n.-1301938_*1510877del r.0? p.0? -
MIR2682 NR_039604.1 ./. - n.-1302758_*1510049del r.0? p.0? -
MIR137HG NR_046105.1 ./. - n.-1298416_*1452807del r.0? p.0? -
DPYD-AS1 NR_046590.1 ./. - n.-560730_*2025154del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050472 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen