All variants in the DPYD gene

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

Owner     
-?/-? 18 c.2194G>A - p.(Val732Ile) - - likely benign g.97770920C>T g.97305364C>T - - DPYD_000007 mixed haplotype DPYD*5/*6, haplotype assignment requested pers. comm. - rs1801160 Unknown - - - 0 - Johan den Dunnen
-?/-? 18 c.2194G>A r.219g>a p.Val732Ile DPYD*6 - likely benign g.97770920C>T g.97305364C>T 2194C>T - DPYD_000007 reference haplotype DPYD*6 [2194G>A] PubMed: McLeod 1998 - rs1801160 Germline - - - 0 - Johan den Dunnen
-/. - c.2194G>A r.(?) p.(Val732Ile) - - benign g.97770920C>T g.97305364C>T DPYD(NM_000110.3):c.2194G>A (p.V732I), DPYD-AS1(NR_046590.1):n.129-825C>T - DPYD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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