| Gene ID | 51079 |
| Symbol | NDUFA13 |
| Synonymous | B16.6|CDA016|CGI-39|GRIM-19|GRIM19 |
| Full name | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 |
| Gene description | CI-B16.6|NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13|NADH-ubiquinone oxidoreductase B16.6 subunit|cell death regulatory protein GRIM-19|cell death-regulatory protein GRIM19|complex I B16.6 subunit|complex I-B16.6|gene associated with ret |
| Cytoband | 19p13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:609435; HGNC:HGNC:17194; HPRD:09452 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.137T>G; p.V46G; 19:19516126-19516126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.213C>A; p.H71Q; 19:19516202-19516202 |
ovary | other; neoplasm | Substitution - Missense |
c.237_238GG>AA; p.W79_D80>*; 19:19516226-19516227 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Complex - deletion inframe |
c.354G>T; p.M118I; 19:19526192-19526192 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.354G>T; p.M118I; 19:19526192-19526192 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.592C>T; p.R198C; 19:19528034-19528034 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.211C>T; p.H71Y; 19:19516200-19516200 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.285G>C; p.P95P; 19:19516274-19516274 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.41G>C; p.R14T; 19:19516030-19516030 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.169T>C; p.S57P; 19:19516158-19516158 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.169T>C; p.S57P; 19:19516158-19516158 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.76G>T; p.A26S; 19:19516065-19516065 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.441C>T; p.D147D; 19:19527299-19527299 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.331C>A; p.R111R; 19:19516320-19516320 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.164C>T; p.T55I; 19:19516153-19516153 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.141G>T; p.R47R; 19:19516130-19516130 |
thyroid | other; neoplasm | Substitution - coding silent |
c.229G>A; p.E77K; 19:19516218-19516218 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.229G>A; p.E77K; 19:19516218-19516218 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.491_492GG>TT; p.R164L; 19:19527349-19527350 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.287_288insG; p.Y99fs*41; 19:19516276-19516277 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.347A>G; p.Y116C; 19:19526185-19526185 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.223G>A; p.G75R; 19:19516212-19516212 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.341C>T; p.S114L; 19:19516330-19516330 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.462G>C; p.L154L; 19:19527320-19527320 |
thyroid | other; neoplasm | Substitution - coding silent |
c.216C>T; p.F72F; 19:19516205-19516205 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.664G>A; p.G222S; 19:19528106-19528106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.355C>T; p.L119L; 19:19526193-19526193 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.190A>G; p.I64V; 19:19516179-19516179 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.14G>A; p.R5K; 19:19516003-19516003 |
ovary | other; neoplasm | Substitution - Missense |
c.418C>T; p.R140C; 19:19526256-19526256 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.680C>T; p.T227M; 19:19528122-19528122 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.494G>A; p.R165K; 19:19527352-19527352 |
skin | malignant_melanoma | Substitution - Missense |
c.494G>A; p.R165K; 19:19527352-19527352 |
skin | malignant_melanoma | Substitution - Missense |
c.174T>A; p.S58R; 19:19516163-19516163 |
breast | carcinoma | Substitution - Missense |
c.276C>G; p.D92E; 19:19516265-19516265 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |