AVDB

Gene F11 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: F11

Disorder: Factor XI deficiency

Allele Frequency: 0.0020938

Carrier Rate: 0.00417884

Max At-Risk Couples rate: 0.0000175

The table below lists all clinically relevant variants identified in the F11 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
94 187206919 F11 NM_000128.4:c.1432G>A NP_000119.1:p.Gly478Arg 4 0.001675%
686 187197519 F11 NM_000128.4:c.730C>T NP_000119.1:p.Gln244Ter 1 0.000419%