| Gene ID | 1139 |
| Symbol | CHRNA7 |
| Synonymous | CHRNA7-2|NACHRA7 |
| Full name | cholinergic receptor, nicotinic, alpha 7 (neuronal) |
| Gene description | a7 nicotinic acetylcholine receptor|alpha 7 neuronal nicotinic acetylcholine receptor|alpha-7 nicotinic cholinergic receptor subunit|cholinergic receptor, nicotinic, alpha polypeptide 7|neuronal acetylcholine receptor protein, alpha-7 chain|neuronal acety |
| Cytoband | 15q14 |
| Gene type | protein-coding |
| Synonymous | MIM:118511; HGNC:HGNC:1960; Ensembl:ENSG00000175344; HPRD:00339; Vega:OTTHUMG00000129285 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.109T>A; p.Y37N; 15:32030951-32030951 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.109T>A; p.Y37N; 15:32030951-32030951 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742G>T; p.A248S; 15:32158555-32158555 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.196-4G>T; p.?; 15:32101299-32101299 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.196-4G>T; p.?; 15:32101299-32101299 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.196-4G>T; p.?; 15:32101299-32101299 |
liver | carcinoma | Unknown |
c.1060C>T; p.R354C; 15:32168009-32168009 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.643G>A; p.E215K; 15:32158456-32158456 |
skin | malignant_melanoma | Substitution - Missense |
c.1119C>T; p.A373A; 15:32168068-32168068 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.111delC; p.Y37fs*1; 15:32030953-32030953 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.851C>A; p.P284H; 15:32159626-32159626 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1044C>T; p.P348P; 15:32167993-32167993 |
thyroid | other; neoplasm | Substitution - coding silent |
c.599G>A; p.G200E; 15:32158412-32158412 |
skin | malignant_melanoma | Substitution - Missense |
c.12G>T; p.S4S; 15:32030606-32030606 |
liver | carcinoma | Substitution - coding silent |
c.246G>A; p.W82*; 15:32111795-32111795 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Nonsense |
c.61C>A; p.L21M; 15:32030903-32030903 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1135G>A; p.A379T; 15:32168084-32168084 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1104T>C; p.S368S; 15:32168053-32168053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.72G>C; p.E24D; 15:32030914-32030914 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.866C>T; p.S289L; 15:32159641-32159641 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.267G>A; p.W89*; 15:32111816-32111816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.689C>T; p.T230M; 15:32158502-32158502 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1117G>T; p.A373S; 15:32168066-32168066 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.683G>T; p.R228L; 15:32158496-32158496 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1144G>A; p.G382R; 15:32168093-32168093 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1144G>A; p.G382R; 15:32168093-32168093 |
skin | malignant_melanoma | Substitution - Missense |
c.834C>T; p.L278L; 15:32159609-32159609 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.960C>T; p.H320H; 15:32163305-32163305 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.712C>T; p.L238L; 15:32158525-32158525 |
breast | carcinoma | Substitution - coding silent |
c.871C>T; p.P291S; 15:32159646-32159646 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.712C>T; p.L238L; 15:32158525-32158525 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1303A>G; p.K435E; 15:32168252-32168252 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1153C>T; p.L385L; 15:32168102-32168102 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.807A>C; p.L269F; 15:32159582-32159582 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.606C>T; p.P202P; 15:32158419-32158419 |
skin | malignant_melanoma | Substitution - coding silent |
c.1096C>A; p.L366M; 15:32168045-32168045 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1075C>T; p.H359Y; 15:32168024-32168024 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.332A>G; p.D111G; 15:32111881-32111881 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.332A>G; p.D111G; 15:32111881-32111881 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.648C>G; p.P216P; 15:32158461-32158461 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.296C>T; p.T99I; 15:32111845-32111845 |
skin | malignant_melanoma | Substitution - Missense |
c.783G>T; p.K261N; 15:32158596-32158596 |
breast | carcinoma | Substitution - Missense |
c.157G>A; p.V53I; 15:32030999-32030999 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.891C>T; p.F297F; 15:32163236-32163236 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.891C>T; p.F297F; 15:32163236-32163236 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1131G>A; p.P377P; 15:32168080-32168080 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1269C>T; p.G423G; 15:32168218-32168218 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1269C>T; p.G423G; 15:32168218-32168218 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1354G>A; p.E452K; 15:32168303-32168303 |
thyroid | other; neoplasm | Substitution - Missense |
c.1466C>T; p.S489L; 15:32168415-32168415 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1466C>T; p.S489L; 15:32168415-32168415 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1466C>T; p.S489L; 15:32168415-32168415 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1466C>T; p.S489L; 15:32168415-32168415 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1466C>T; p.S489L; 15:32168415-32168415 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1466C>T; p.S489L; 15:32168415-32168415 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1146G>A; p.G382G; 15:32168095-32168095 |
skin | malignant_melanoma | Substitution - coding silent |
c.961G>T; p.D321Y; 15:32163306-32163306 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1085G>A; p.R362Q; 15:32168034-32168034 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.650A>G; p.Y217C; 15:32158463-32158463 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1061G>A; p.R354H; 15:32168010-32168010 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.234G>T; p.L78L; 15:32101341-32101341 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.783G>A; p.K261K; 15:32158596-32158596 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.351-2A>G; p.?; 15:32153905-32153905 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1335C>T; p.N445N; 15:32168284-32168284 |
breast | carcinoma | Substitution - coding silent |
c.1335C>T; p.N445N; 15:32168284-32168284 |
thyroid | other; neoplasm | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1335C>T; p.N445N; 15:32168284-32168284 |
breast | carcinoma | Substitution - coding silent |
c.1335C>T; p.N445N; 15:32168284-32168284 |
thyroid | other; neoplasm | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
breast | carcinoma | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1335C>T; p.N445N; 15:32168284-32168284 |
breast | carcinoma | Substitution - coding silent |
c.690G>A; p.T230T; 15:32158503-32158503 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.969C>T; p.D323D; 15:32163314-32163314 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.595G>A; p.V199M; 15:32157772-32157772 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.33G>T; p.A11A; 15:32030627-32030627 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.701G>A; p.G234D; 15:32158514-32158514 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |