Annotation Detail

Information
Associated Genes
F2
Associated Variants
F2 c.*97G>A ( ENST00000311907.10 )
F2 c.*97G>A ( ENST00000311907.10 )
Associated Disease
Congenital prothrombin deficiency
Source Database
ClinVar
Description
NM_000506.5(F2):c.*97G>A AND Congenital prothrombin deficiency
ClinVar Allele ID
28349
Clinical Significance Description
Conflicting interpretations of pathogenicity
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, conflicting interpretations
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000205022
ClinVar Disease
Congenital prothrombin deficiency
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs