Full data view for gene DPYD

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

9 entries on 1 page. Showing entries 1 - 9.
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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.1601G>A r.(?) p.(Ser534Asn) - Unknown - - g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - - g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - - g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - - g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - - g.97981421C>T g.97515865C>T - - DPYD_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
-/- 13 c.1601G>A r.1601g>a p.Ser534Asn DPYD*4 Parent #1 - - g.97981421C>T g.97515865C>T G1601A - DPYD_000003 reference haplotype DPYD*4 [1601G>A] PubMed: McLeod 1998 - rs1801158 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - Healthy/Control - PubMed: McLeod 1998 reference haplotype - - - (not applicable) - - 0 - - 1 Johan den Dunnen
-/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - benign g.97981421C>T g.97515865C>T DPYD(NM_000110.3):c.1601G>A (p.S534N) - DPYD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1601G>A r.(?) p.(Ser534Asn) - Unknown - benign g.97981421C>T g.97515865C>T DPYD(NM_000110.3):c.1601G>A (p.S534N) - DPYD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1601G>A r.(?) p.(Ser534Asn) - Parent #1 - - g.97981421C>T g.97515865C>T - - DPYD_000003 conflicting interpretations of pathogenicity; 51 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs1801158 Germline - 51/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 51 Mohammed Faruq
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