Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:7123340
- GRCh38:
- Chr17:7220021
| ACADVL, DLG4 | Q13* | Very long chain acyl-CoA dehydrogenase deficiency | Pathogenic
(Dec 14, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:7127303
- GRCh38:
- Chr17:7223984
| ACADVL | R450H, R374H, R428H, R473H | Very long chain acyl-CoA dehydrogenase deficiency | Likely pathogenic
(Dec 14, 2022) | reviewed by expert panel
FDA Recognized Database |