Annotation Detail

Information
Associated Genes
DPYD
Associated Variants
DPYD c.1905+1G>A ( ENST00000370192.8 )
DPYD c.1905+1G>A ( ENST00000370192.8 )
Source Database
ClinVar
Description
NM_000110.4(DPYD):c.1905+1G>A AND Fluorouracil response
ClinVar Allele ID
15471
ClinVar RefSeq Alternation Syntax
NM_000110.4:c.1905+1G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2016-05-04
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000030868
Observed Origin Sample
germline
Pubmed
8892022
Pubmed
8051923
Pubmed
9686374
Pubmed
7832988
Pubmed
9470816
Pubmed
8698850
Pubmed
10071185
Drugs