Genomic variant #0000000042

Individual ID 00000012, 00080696
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 +?/+? 11 c.1102C>T - r.(?) p.(Arg368*) - - - -
SAMHD1 NM_015474.3 +?/+? 10 c.1106T>C - r.(?) p.(Leu369Ser) - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000012 DNA NGS - - ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 20 LOVD-team, but with Curator vacancy
0000080789 DNA SEQ blood - - 2 Francesca Marta Elli