NM_003321.4(TUFM):c.1016G>A (p.Arg339Gln) | 7284 | TUFM | Pathogenic | 121434452 | RCV000007698; | N | MedGen:C1857682,OMIM:610678,ORPHA:254925 | 16 | 28855329 | 28855329 | NM_003321.4:c.1016G>A | NP_003312.3:p.Arg339Gln | NC_000016.9:g.28855329C>T | OMIM Allelic Variant:602389.0001 | C1857682 610678 Combined oxidative phosphorylation deficiency 4 | | |