| Gene ID | 2512 |
| Symbol | FTL |
| Synonymous | LFTD|NBIA3 |
| Full name | ferritin, light polypeptide |
| Gene description | ferritin L subunit|ferritin L-chain|ferritin light chain|ferritin light polypeptide-like 3 |
| Cytoband | 19q13.33 |
| Gene type | protein-coding |
| Synonymous | MIM:134790; HGNC:HGNC:3999; Ensembl:ENSG00000087086; HPRD:00616; Vega:OTTHUMG00000183332 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.94C>G; p.L32V; 19:48965601-48965601 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.243C>T; p.D81D; 19:48965910-48965910 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.414A>C; p.E138D; 19:48966621-48966621 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.189C>A; p.Y63*; 19:48965856-48965856 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.174G>T; p.E58D; 19:48965841-48965841 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.163T>C; p.L55L; 19:48965830-48965830 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.163T>C; p.L55L; 19:48965830-48965830 |
thyroid | other; neoplasm | Substitution - coding silent |
c.312G>T; p.E104D; 19:48966343-48966343 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.461G>T; p.R154M; 19:48966668-48966668 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.514C>G; p.L172V; 19:48966721-48966721 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.501C>G; p.F167L; 19:48966708-48966708 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.149A>C; p.H50P; 19:48965816-48965816 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.6C>T; p.S2S; 19:48965513-48965513 |
liver | carcinoma | Substitution - coding silent |
c.321G>T; p.L107L; 19:48966352-48966352 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6C>T; p.S2S; 19:48965513-48965513 |
liver | carcinoma | Substitution - coding silent |
c.265G>C; p.E89Q; 19:48966296-48966296 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.387delC; p.L130fs*6; 19:48966594-48966594 |
liver | carcinoma | Deletion - Frameshift |
c.78G>A; p.Q26Q; 19:48965585-48965585 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.422_423insTATCA; p.K143fs*9; 19:48966629-48966630 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.156C>T; p.F52F; 19:48965823-48965823 |
liver | carcinoma | Substitution - coding silent |
c.156C>T; p.F52F; 19:48965823-48965823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.156C>T; p.F52F; 19:48965823-48965823 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.501C>T; p.F167F; 19:48966708-48966708 |
breast | carcinoma | Substitution - coding silent |
c.501C>T; p.F167F; 19:48966708-48966708 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.51C>G; p.V17V; 19:48965558-48965558 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.76C>A; p.Q26K; 19:48965583-48965583 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.228C>T; p.R76R; 19:48965895-48965895 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.228C>T; p.R76R; 19:48965895-48965895 |
liver | carcinoma | Substitution - coding silent |
c.373C>A; p.H125N; 19:48966404-48966404 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.409G>T; p.E137*; 19:48966616-48966616 |
kidney | other; neoplasm | Substitution - Nonsense |
c.382G>A; p.D128N; 19:48966589-48966589 |
breast | carcinoma | Substitution - Missense |
c.78_79insG; p.A27fs*16; 19:48965585-48965586 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.449C>T; p.T150I; 19:48966656-48966656 |
skin | malignant_melanoma | Substitution - Missense |
c.168C>G; p.A56A; 19:48965835-48965835 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |