Genomic variant #0000000077

Individual ID 00000056
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.97981421C>T
DNA change (hg38) g.97515865C>T
Published as -
ISCN -
DB-ID DPYD_000003 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.01492 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
DPYD NM_000110.3 ?/. - c.1601G>A - r.(?) p.(Ser534Asn) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000056 DNA SEQ-NG - - ACADL, ADA, ASPA, ATP7B, BTD, CYP27A1, DPYD, ETFB, GLB1, HEXB, IGHMBP2, NPHS1, SERPINA1, SLC26A2 16 LOVD-team, but with Curator vacancy