Gene DOK7 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: DOK7
Disorder: Fetal akinesia deformation sequence 3
Allele Frequency: 0.000837521
Carrier Rate: 0.00167364
Max At-Risk Couples rate: 0.0000028
The table below lists all clinically relevant variants identified in the DOK7 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 688 |
3494665 |
DOK7 |
NM_173660.5:c.957dupC |
NP_775931.3:p.Lys320Glnfs*49 |
1 |
0.000419% |
| 689 |
3502518 |
DOK7 |
NM_001301071.2:c.1793C>A |
NP_001288000.1:p.Ser598Ter |
1 |
0.000419% |
