Full data view for gene DPYD

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.? p.? - Parent #2 - pathogenic (recessive) g.[97997390_98113120inv;97997386_97997389del] - g.[98113121_97997390inv;97997386_97997389del] - DPYD_000030 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, 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
+/. 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.spl p.? - Maternal (confirmed) - pathogenic (recessive) g.[97997390_98113120inv;97997386_97997389del] - g.[98113121_97997390inv;97997386_97997389del] - DPYD_000030 - 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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