Gene ACADVL 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: ACADVL
Disorder: Very long chain acyl-CoA dehydrogenase deficiency
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the ACADVL gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 531 |
7123820 |
ACADVL |
NM_000018.4:c.178_179delCT |
NP_000009.1:p.Leu60Aspfs*11 |
1 |
0.000419% |
| 532 |
7125570 |
ACADVL |
NM_000018.4:c.829_831delGAG |
NP_000009.1:p.Glu277del |
1 |
0.000419% |
| 533 |
7125591 |
ACADVL |
NM_000018.4:c.848T>C |
NP_000009.1:p.Val283Ala |
1 |
0.000419% |
