Variant #0000606030 (NC_000001.10:g.98205971_98205974del, DPYD(NM_000110.3):c.299_302del)

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.98205971_98205974del
DNA change (hg38) g.97740415_97740418del
Published as DPYD(NM_000110.3):c.299_302delTCAT (p.F100Sfs*15)
ISCN -
DB-ID DPYD_000009 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
DPYD NM_000110.3 +/. - c.299_302del r.(?) p.(Phe100SerfsTer15) -