Variant #0000470943 (NC_000001.10:g.98348885G>A, DPYD(NM_000110.3):c.85C>T)

Individual ID 00155716
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.98348885G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID DPYD_000011 See all 4 reported entries
Variant remarks Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
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) 0.77088 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 ?/. - c.85C>T r.85c>u p.Arg29Cys -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156580 DNA SEQ-NG-I - - - 2 Maja Tarailo-Graovac