Annotation Detail
Information
- Associated Genes
- DPYD
- Associated Variants
-
DPYD p.Ile560Ser (p.I560S)
(
ENST00000370192.8 )
DPYD p.Ile560Ser (p.I560S) ( ENST00000370192.8 ) - Associated Disease
- dihydropyrimidine dehydrogenase deficiency
- Source Database
- ClinVar
- Description
- NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) AND Dihydropyrimidine dehydrogenase deficiency
- ClinVar Allele ID
- 94530
- ClinVar RefSeq Alternation Syntax
- NM_000110.4:c.1679T>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-01-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000410952
- ClinVar Disease
- Dihydropyrimidine dehydrogenase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs