Annotation Detail

Information
Associated Genes
DPYD
Associated Variants
DPYD c.1905+1G>A ( ENST00000370192.8 )
DPYD c.1905+1G>A ( ENST00000370192.8 )
Associated Disease
Inborn genetic diseases
Source Database
ClinVar
Description
NM_000110.4(DPYD):c.1905+1G>A AND Inborn genetic diseases
ClinVar Allele ID
15471
ClinVar RefSeq Alternation Syntax
NM_000110.4:c.1905+1G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2021-03-09
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV004018525
ClinVar Disease
Inborn genetic diseases
Observed Origin Sample
germline
Drugs