| Gene ID | 218 |
| Symbol | ALDH3A1 |
| Synonymous | ALDH3|ALDHIII |
| Full name | aldehyde dehydrogenase 3 family, member A1 |
| Gene description | aldehyde dehydrogenase isozyme 3|aldehyde dehydrogenase type III|aldehyde dehydrogenase, dimeric NADP-preferring|stomach aldehyde dehydrogenase |
| Cytoband | 17p11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:100660; HGNC:HGNC:405; Ensembl:ENSG00000108602; HPRD:00004; Vega:OTTHUMG00000059469 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.782T>G; p.V261G; 17:19741118-19741118 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.214G>T; p.E72*; 17:19743412-19743412 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.280C>T; p.Q94*; 17:19743346-19743346 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.16G>A; p.E6K; 17:19745114-19745114 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.616C>A; p.P206T; 17:19742077-19742077 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13A>G; p.S5G; 17:19745117-19745117 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.16G>A; p.E6K; 17:19745114-19745114 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.711C>A; p.F237L; 17:19741189-19741189 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.809A>C; p.E270A; 17:19740476-19740476 |
pancreas | NS | Substitution - Missense |
c.394G>T; p.G132W; 17:19743232-19743232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333C>T; p.P445S; 17:19738337-19738337 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.759C>T; p.D253D; 17:19741141-19741141 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.163-10G>C; p.?; 17:19743473-19743473 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1032C>T; p.C344C; 17:19739592-19739592 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.817G>A; p.G273R; 17:19740468-19740468 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1110C>T; p.N370N; 17:19739514-19739514 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1110C>T; p.N370N; 17:19739514-19739514 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1313G>A; p.G438D; 17:19738357-19738357 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1008C>A; p.F336L; 17:19739616-19739616 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.440C>T; p.A147V; 17:19742585-19742585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.543C>T; p.F181F; 17:19742150-19742150 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.655G>A; p.V219M; 17:19742038-19742038 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.318C>T; p.G106G; 17:19743308-19743308 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.335G>T; p.G112V; 17:19743291-19743291 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.604A>G; p.K202E; 17:19742089-19742089 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.550A>G; p.I184V; 17:19742143-19742143 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.328G>A; p.V110I; 17:19743298-19743298 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.969C>T; p.D323D; 17:19739655-19739655 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.569C>T; p.T190M; 17:19742124-19742124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.339C>T; p.T113T; 17:19743287-19743287 |
skin | malignant_melanoma | Substitution - coding silent |
c.264G>T; p.E88D; 17:19743362-19743362 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.831delG; p.K278fs*17; 17:19740454-19740454 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.741T>A; p.P247P; 17:19741159-19741159 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116+1G>A; p.?; 17:19739507-19739507 |
skin | malignant_melanoma | Unknown |
c.298A>C; p.I100L; 17:19743328-19743328 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.325C>T; p.L109F; 17:19743301-19743301 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.963C>T; p.L321L; 17:19739661-19739661 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.212T>C; p.I71T; 17:19743414-19743414 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.330C>A; p.V110V; 17:19743296-19743296 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.950-3C>A; p.?; 17:19739677-19739677 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.189G>A; p.E63E; 17:19743437-19743437 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1317G>A; p.L439L; 17:19738353-19738353 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1258G>A; p.E420K; 17:19738412-19738412 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1258G>A; p.E420K; 17:19738412-19738412 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.924C>T; p.T308T; 17:19740361-19740361 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.288C>T; p.D96D; 17:19743338-19743338 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.288C>T; p.D96D; 17:19743338-19743338 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1297C>G; p.L433V; 17:19738373-19738373 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.985C>A; p.P329T; 17:19739639-19739639 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1168G>A; p.D390N; 17:19739044-19739044 |
skin | malignant_melanoma | Substitution - Missense |
c.416C>T; p.P139L; 17:19742609-19742609 |
skin | malignant_melanoma | Substitution - Missense |
c.1257C>T; p.F419F; 17:19738413-19738413 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1190T>C; p.L397S; 17:19739022-19739022 |
skin | malignant_melanoma | Substitution - Missense |
c.815A>G; p.Y272C; 17:19740470-19740470 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1257C>T; p.F419F; 17:19738413-19738413 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1190T>C; p.L397S; 17:19739022-19739022 |
skin | malignant_melanoma | Substitution - Missense |
c.1330C>T; p.P444S; 17:19738340-19738340 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.289G>A; p.E97K; 17:19743337-19743337 |
skin | malignant_melanoma | Substitution - Missense |
c.697G>A; p.A233T; 17:19741203-19741203 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.697G>A; p.A233T; 17:19741203-19741203 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.392C>T; p.A131V; 17:19743234-19743234 |
skin | malignant_melanoma | Substitution - Missense |
c.813C>A; p.F271L; 17:19740472-19740472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.816C>T; p.Y272Y; 17:19740469-19740469 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.816C>T; p.Y272Y; 17:19740469-19740469 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.531C>G; p.L177L; 17:19742162-19742162 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1347+1G>A; p.?; 17:19738322-19738322 |
central_nervous_system; brain | glioma | Unknown |
c.356A>G; p.N119S; 17:19743270-19743270 |
skin | malignant_melanoma | Substitution - Missense |
c.866G>A; p.R289Q; 17:19740419-19740419 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.623C>T; p.T208M; 17:19742070-19742070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.935C>T; p.A312V; 17:19740350-19740350 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1334delC; p.P445fs*6; 17:19738336-19738336 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1334delC; p.P445fs*6; 17:19738336-19738336 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.691C>T; p.R231C; 17:19741209-19741209 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.692G>A; p.R231H; 17:19741208-19741208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.836C>T; p.S279F; 17:19740449-19740449 |
skin | malignant_melanoma | Substitution - Missense |
c.248C>T; p.A83V; 17:19743378-19743378 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.922A>C; p.T308P; 17:19740363-19740363 |
breast | carcinoma | Substitution - Missense |
c.248C>T; p.A83V; 17:19743378-19743378 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.922A>C; p.T308P; 17:19740363-19740363 |
breast | carcinoma | Substitution - Missense |
c.140C>G; p.A47G; 17:19744990-19744990 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.490C>T; p.P164S; 17:19742203-19742203 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.389C>T; p.A130V; 17:19743237-19743237 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.451G>A; p.A151T; 17:19742574-19742574 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1306G>A; p.D436N; 17:19738364-19738364 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1193A>T; p.H398L; 17:19739019-19739019 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1193A>T; p.H398L; 17:19739019-19739019 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.1193A>T; p.H398L; 17:19739019-19739019 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.941G>A; p.R314H; 17:19740344-19740344 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.G273E; 17:19740467-19740467 |
skin | malignant_melanoma | Substitution - Missense |
c.1009G>A; p.G337R; 17:19739615-19739615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.985C>G; p.P329A; 17:19739639-19739639 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.169T>C; p.W57R; 17:19743457-19743457 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1238A>G; p.Y413C; 17:19738432-19738432 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.97C>A; p.L33M; 17:19745033-19745033 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.681G>A; p.V227V; 17:19742012-19742012 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |