Gene ACAD8 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: ACAD8
Disorder: Isobutyryl-CoA dehydrogenase deficiency
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 ACAD8 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 176 |
134130983 |
ACAD8 |
NM_014384.3:c.753_754delTG |
NP_055199.1:p.Ala252Cysfs*60 |
2 |
0.000838% |
