Annotation Detail

Information

Associated Genes: F2
Associated Variants: F2 c.*97G>A ( ENST00000311907.10 )
F2 c.*97G>A ( ENST00000311907.10 )
Associated Disease: thrombophilia due to thrombin defect
Source Database: ClinVar
Description: NM_000506.5(F2):c.*97G>A AND Thrombophilia due to thrombin defect
Pubmed: 9569177
Pubmed: 19531787
Pubmed: 10233439
Pubmed: 9292507
Pubmed: 10233438
Pubmed: 10348710
Pubmed: 10348711
Pubmed: 10406905
Pubmed: 8916933
Pubmed: 10348712
Pubmed: 9531249
Pubmed: 10027711
Pubmed: 10336270
Pubmed: 16493002
Pubmed: 6305407
Pubmed: 2222810
Pubmed: 9694698
ClinVar Allele ID: 28349
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2023-07-27
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014237
ClinVar Disease: Thrombophilia due to thrombin defect
Observed Origin Sample: germline
Observed Origin Sample: paternal
Observed Origin Sample: unknown
Pubmed: 10477778
Pubmed: 11796466
Pubmed: 11443298
Pubmed: 15534175
Pubmed: 11506076
Pubmed: 10544935
Pubmed: 9493607
Pubmed: 9869612

Drugs