Gene COQ9 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: COQ9
Disorder: Primary coenzyme Q10 deficiency, neonatal onset
Allele Frequency: 0.00335008
Carrier Rate: 0.00667772
Max At-Risk Couples rate: 0.0000446
The table below lists all clinically relevant variants identified in the COQ9 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 37 |
57493495 |
COQ9 |
NM_020312.4:c.730C>T |
NP_064708.1:p.Arg244Ter |
8 |
0.00335% |
