Full data view for gene DPYD

Information The variants shown are described using the NM_000110.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Both (homozygous) - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. 6 c.496A>G r.(?) p.(Met166Val) - Parent #2 - likely benign g.98165091T>C g.97699535T>C A496G (M166V) - DPYD_000002 normal enzyme activity (PBM cells) PubMed: Johnson 2002 - - Unknown - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Johnson 2002 husband of 11895907-FamPatII5 M no United States - - 0 - - 1 Johan den Dunnen
-?/. 6 c.496A>G r.(?) p.(Met166Val) - Paternal (confirmed) - likely benign g.98165091T>C g.97699535T>C M166V - DPYD_000002 - PubMed: Johnson 2002 - - Germline no - - 0 - DNA SEQ - - DPDD - PubMed: Johnson 2002 daugther of 11895907-FamPatII5/II6 F no United States - - 0 - - 1 Johan den Dunnen
-?/. 6 c.496A>G r.(?) p.(Met166Val) - Maternal (confirmed) - likely benign g.98165091T>C g.97699535T>C M166V - DPYD_000002 normal enzyme activity (PBM cells) PubMed: Johnson 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Johnson 2002 3 children of 11895907-FamPatIII6/III7 (F, 2M) - no United States - - 0 - - 3 Johan den Dunnen
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.496A>G r.(?) p.(Met166Val) - Unknown - VUS g.98165091T>C g.97699535T>C - - DPYD_000002 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HANā€HapMap sample F - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.496A>G r.(?) p.(Met166Val) - Unknown - benign g.98165091T>C g.97699535T>C DPYD(NM_000110.3):c.496A>G (p.M166V) - DPYD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.496A>G r.496a>g p.Met166Val - Paternal (inferred) - benign g.98165091T>C g.97699535T>C - - DPYD_000002 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - DPDD son PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - M - Netherlands - - 0 - - 1 Johan den Dunnen
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