Full data view for gene DPYD

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

4 entries on 1 page. Showing entries 1 - 4.
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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.85= r.(=) p.(Cys29=) - Unknown - benign g.98348885G>A - DPYD(NM_000110.3):c.85C>T (p.R29C) - DPYD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 2 c.85C>T r.85c>u p.Arg29Cys DPYD*1 Parent #1 - benign g.98348885G>A g.97883329G>A - - DPYD_000011 reference haplotype DPYD*1 [85T=; 2657G=]; note the reference sequence has haplotype DPYD*9A Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: McLeod 1998 - rs1801265 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - Healthy/Control - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
?/. - c.85C>T r.85c>u p.Arg29Cys - Paternal (confirmed) - VUS g.98348885G>A - - - DPYD_000011 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. 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
?/. - c.85C>T r.85c>u p.Arg29Cys - Parent #1 - VUS g.98348885G>A - - - DPYD_000011 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - DNA SEQ-NG-I - - DPDD mother PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 2-generation family, 3 affected, mother/son/daughter M - Netherlands - - 0 - - 3 Maja Tarailo-Graovac
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