| Gene ID | 226 |
| Symbol | ALDOA |
| Synonymous | ALDA|GSD12|HEL-S-87p |
| Full name | aldolase A, fructose-bisphosphate |
| Gene description | epididymis secretory sperm binding protein Li 87p|fructose-1,6-bisphosphate triosephosphate-lyase|fructose-bisphosphate aldolase A|lung cancer antigen NY-LU-1|muscle-type aldolase |
| Cytoband | 16p11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:103850; HGNC:HGNC:414; Ensembl:ENSG00000149925; HPRD:00070; Vega:OTTHUMG00000132107 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.864C>T; p.N288N; 16:30069894-30069894 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.970G>T; p.A324S; 16:30070000-30070000 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.186G>A; p.L62L; 16:30067523-30067523 |
prostate | carcinoma | Substitution - coding silent |
c.1075G>A; p.V359I; 16:30070192-30070192 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.652A>T; p.S218C; 16:30069526-30069526 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.652A>T; p.S218C; 16:30069526-30069526 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.732T>G; p.F244L; 16:30069606-30069606 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.574C>T; p.L192F; 16:30069339-30069339 |
skin | malignant_melanoma | Substitution - Missense |
c.241C>T; p.H81Y; 16:30067578-30067578 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.601C>T; p.R201C; 16:30069366-30069366 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.587A>G; p.D196G; 16:30069352-30069352 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.380-1G>A; p.?; 16:30068817-30068817 |
lung | carcinoma; adenocarcinoma | Unknown |
c.328G>C; p.D110H; 16:30068649-30068649 |
breast | carcinoma | Substitution - Missense |
c.246G>A; p.E82E; 16:30067583-30067583 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1033C>T; p.P345S; 16:30070150-30070150 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.202G>A; p.D68N; 16:30067539-30067539 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.767C>T; p.A256V; 16:30069641-30069641 |
breast | carcinoma | Substitution - Missense |
c.363C>T; p.G121G; 16:30068684-30068684 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.385G>C; p.D129H; 16:30068823-30068823 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.789C>T; p.P263P; 16:30069663-30069663 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.417G>A; p.K139K; 16:30068855-30068855 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.884C>A; p.P295H; 16:30069914-30069914 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.955G>T; p.E319*; 16:30069985-30069985 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.423C>T; p.D141D; 16:30068861-30068861 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.226G>T; p.G76C; 16:30067563-30067563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.436G>A; p.A146T; 16:30068874-30068874 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.776G>A; p.R259H; 16:30069650-30069650 |
prostate | carcinoma | Substitution - Missense |
c.577C>T; p.P193S; 16:30069342-30069342 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.302A>T; p.K101M; 16:30067639-30067639 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.805A>G; p.T269A; 16:30069835-30069835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.510T>C; p.V170V; 16:30068948-30068948 |
ovary | other; neoplasm | Substitution - coding silent |
c.1022G>A; p.G341E; 16:30070139-30070139 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.783_784insC; p.A264fs*14; 16:30069657-30069658 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.580G>A; p.D194N; 16:30069345-30069345 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1039G>T; p.G347C; 16:30070156-30070156 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.568G>A; p.E190K; 16:30069333-30069333 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.825G>C; p.Q275H; 16:30069855-30069855 |
breast | carcinoma | Substitution - Missense |
c.568G>A; p.E190K; 16:30069333-30069333 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.61C>T; p.H21Y; 16:30067315-30067315 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.655G>A; p.D219N; 16:30069529-30069529 |
breast | carcinoma | Substitution - Missense |
c.1061G>T; p.S354I; 16:30070178-30070178 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.539A>G; p.Q180R; 16:30068977-30068977 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.157G>A; p.E53K; 16:30067494-30067494 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.157G>A; p.E53K; 16:30067494-30067494 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.64C>T; p.R22C; 16:30067318-30067318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.64C>T; p.R22C; 16:30067318-30067318 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.736C>T; p.H246Y; 16:30069610-30069610 |
breast | carcinoma | Substitution - Missense |
c.755C>T; p.A252V; 16:30069629-30069629 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.957G>A; p.E319E; 16:30069987-30069987 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.598A>T; p.K200*; 16:30069363-30069363 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1069C>T; p.L357F; 16:30070186-30070186 |
skin | malignant_melanoma | Substitution - Missense |
c.586G>A; p.D196N; 16:30069351-30069351 |
pancreas | carcinoma | Substitution - Missense |
c.586G>A; p.D196N; 16:30069351-30069351 |
pancreas | carcinoma | Substitution - Missense |
c.738T>G; p.H246Q; 16:30069612-30069612 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1008C>T; p.S336S; 16:30070125-30070125 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.479C>T; p.S160L; 16:30068917-30068917 |
breast | carcinoma | Substitution - Missense |
c.278C>T; p.P93L; 16:30067615-30067615 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.780A>G; p.T260T; 16:30069654-30069654 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.952A>G; p.K318E; 16:30069982-30069982 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.445C>T; p.R149C; 16:30068883-30068883 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.790G>A; p.A264T; 16:30069664-30069664 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.252C>G; p.L84L; 16:30067589-30067589 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.374C>T; p.T125I; 16:30068695-30068695 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.374C>T; p.T125I; 16:30068695-30068695 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.374C>T; p.T125I; 16:30068695-30068695 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.374C>T; p.T125I; 16:30068695-30068695 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.971C>T; p.A324V; 16:30070001-30070001 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |