Annotation Detail
Information
- Associated Genes
- DPYD
- Associated Variants
-
DPYD c.1905+1G>C
(
ENST00000370192.8 )
DPYD c.1905+1G>C ( ENST00000370192.8 ) - Associated Disease
- dihydropyrimidine dehydrogenase deficiency
- Source Database
- ClinVar
- Description
- NM_000110.4(DPYD):c.1905+1G>C AND Dihydropyrimidine dehydrogenase deficiency
- ClinVar Allele ID
- 362495
- ClinVar RefSeq Alternation Syntax
- NM_000110.4:c.1905+1G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-04-11
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003123363
- ClinVar Disease
- Dihydropyrimidine dehydrogenase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs