Annotation Detail
Information
- Associated Genes
- DPYD
- Associated Variants
-
DPYD c.1905+1G>A
(
ENST00000370192.8 )
DPYD c.1905+1G>A ( ENST00000370192.8 ) - Associated Disease
- dihydropyrimidine dehydrogenase deficiency
- Source Database
- ClinVar
- Description
- NM_000110.4(DPYD):c.1905+1G>A AND Dihydropyrimidine dehydrogenase deficiency
- ClinVar Allele ID
- 15471
- ClinVar RefSeq Alternation Syntax
- NM_000110.4:c.1905+1G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-03-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000460
- ClinVar Disease
- Dihydropyrimidine dehydrogenase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8892022
- Pubmed
- 8051923
- Pubmed
- 9686374
- Pubmed
- 7832988
- Pubmed
- 9470816
- Pubmed
- 8698850
- Pubmed
- 10071185
Drugs