Genomic variant #0000000032

Individual ID 00000031, 00080174
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.97981395T>C
DNA change (hg38) g.97515839T>C
Published as -
ISCN -
DB-ID DPYD_000001 See all 30 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.18361 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
DPYD NM_000110.3 ?/. - c.1627A>G - r.(?) p.(Ile543Val) - - - -
PRKAR1A NM_002734.4 +?/+? 9 c.854A>G - r.(854a>g) p.(Gln285Arg) - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000031 DNA SEQ-NG - - ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, SERPINA1, TMEM67, WNT10A 17 LOVD-team, but with Curator vacancy
0000080267 DNA SEQ blood - - 2 Francesca Marta Elli