Gene F7 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: F7
Disorder: Factor VII deficiency
Allele Frequency: 0.00753769
Carrier Rate: 0.0149617
Max At-Risk Couples rate: 0.000223854
The table below lists all clinically relevant variants identified in the F7 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 19 |
113773012 |
F7 |
NM_000131.4:c.1091G>A |
NP_000122.1:p.Arg364Gln |
15 |
0.006281% |
| 430 |
113772832 |
F7 |
NM_000131.4:c.911C>T |
NP_000122.1:p.Ala304Val |
1 |
0.000419% |
| 431 |
113773072 |
F7 |
NM_000131.4:c.1151C>T |
NP_000122.1:p.Thr384Met |
1 |
0.000419% |
| 432 |
113773309 |
F7 |
NM_000131.4:c.1391delC |
NP_000122.1:p.Pro464Hisfs |
1 |
0.000419% |
