Variant #0000000037 (NC_000001.10:g.97981395T>C, DPYD(NM_000110.3):c.1627A>G)

Individual ID 00000014, 00080691
Chromosome 1
Allele Unknown
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.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 (gnomAD v.2.1.1) 0.19681 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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*) - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000014 DNA SEQ-NG - - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM 22 Global Variome, with Curator vacancy
0000080784 DNA SEQ blood - - 2 Francesca Marta Elli