Annotation Detail
Information
- Associated Genes
- F2
- Associated Variants
-
F2 p.Arg596Leu (p.R596L)
(
ENST00000530231.5,
ENST00000311907.10 )
F2 p.Arg596Leu (p.R596L) ( ENST00000311907.10, ENST00000530231.5 ) - Associated Disease
- thrombophilia due to thrombin defect
- Source Database
- ClinVar
- Description
- NM_000506.5(F2):c.1787G>T (p.Arg596Leu) AND Thrombophilia due to thrombin defect
- ClinVar Allele ID
- 40578
- ClinVar RefSeq Alternation Syntax
- NM_000506.5:c.1787G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-06-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000024607
- ClinVar Disease
- Thrombophilia due to thrombin defect
- Observed Origin Sample
- germline
- Pubmed
- 22716977
Drugs