AVDB

Gene F2 Details

It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.

Gene: F2

Disorder: Thrombophilia 1 due to thrombin defect

Allele Frequency: 0.00921273

Carrier Rate: 0.0182557

Max At-Risk Couples rate: 0.000333271

The table below lists all clinically relevant variants identified in the F2 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
11 46761055 F2 NM_000506.5:c.*97G>A p.? 22 0.009213%