Genomic variant #0000000078

Individual ID 00000057
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.97547947T>A
DNA change (hg38) g.97082391T>A
Published as -
ISCN -
DB-ID DPYD_000004 See all 13 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs67376798
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00392 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
DPYD NM_000110.3 ?/. 22 c.2846A>T - r.(?) p.(Asp949Val) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000057 DNA SEQ-NG - - ALDOB, ATM, ATP7B, DPYD, ERCC6, ETFB, GAA, IGHMBP2, LAMA2, NHLRC1, NPHS1, SERPINA1 15 LOVD-team, but with Curator vacancy