Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr11:77781026-77781047
- GRCh38:
- Chr11:78069980-78070001
| NDUFC2, NDUFC2-KCTD14 | H93fs, H116fs | Mitochondrial disease | Pathogenic
(Feb 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:77784181
- GRCh38:
- Chr11:78073135
| NDUFC2, NDUFC2-KCTD14 | H58L | Mitochondrial disease | Pathogenic
(Feb 10, 2020) | criteria provided, single submitter |