| Gene ID | 1 |
| Symbol | A1BG |
| Synonymous | A1B|ABG|GAB|HYST2477 |
| Full name | alpha-1-B glycoprotein |
| Gene description | HEL-S-163pA|alpha-1B-glycoprotein|epididymis secretory sperm binding protein Li 163pA |
| Cytoband | 19q13.4 |
| Gene type | protein-coding |
| Synonymous | MIM:138670; HGNC:HGNC:5; Ensembl:ENSG00000121410; HPRD:00726; Vega:OTTHUMG00000183507 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.559G>T; p.D187Y; 19:58352337-58352337 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.243C>G; p.F81L; 19:58353025-58353025 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.243C>G; p.F81L; 19:58353025-58353025 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1153G>C; p.G385R; 19:58350409-58350409 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.996G>C; p.A332A; 19:58350566-58350566 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.791T>C; p.F264S; 19:58351510-58351510 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.545G>A; p.C182Y; 19:58352351-58352351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.105C>T; p.S35S; 19:58353163-58353163 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782G>A; p.R261H; 19:58351519-58351519 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.554G>A; p.R185Q; 19:58352342-58352342 |
liver | carcinoma | Substitution - Missense |
c.1350G>A; p.G450G; 19:58347483-58347483 |
liver | carcinoma | Substitution - coding silent |
c.735C>T; p.R245R; 19:58351566-58351566 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.735C>T; p.R245R; 19:58351566-58351566 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.810C>T; p.A270A; 19:58351491-58351491 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.409G>A; p.A137T; 19:58352487-58352487 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.80C>T; p.T27M; 19:58353188-58353188 |
ovary | other; neoplasm | Substitution - Missense |
c.394G>A; p.G132S; 19:58352502-58352502 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>T; p.V126L; 19:58352520-58352520 |
thyroid | other; neoplasm | Substitution - Missense |
c.607G>C; p.E203Q; 19:58352289-58352289 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.839G>T; p.R280L; 19:58351462-58351462 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1311G>C; p.E437D; 19:58347522-58347522 |
skin | malignant_melanoma | Substitution - Missense |
c.568G>A; p.G190S; 19:58352328-58352328 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812T>G; p.L271R; 19:58351489-58351489 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812T>G; p.L271R; 19:58351489-58351489 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812T>G; p.L271R; 19:58351489-58351489 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812T>G; p.L271R; 19:58351489-58351489 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812T>G; p.L271R; 19:58351489-58351489 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1034G>A; p.R345H; 19:58350528-58350528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.90C>A; p.S30R; 19:58353178-58353178 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.779A>G; p.D260G; 19:58351522-58351522 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.445C>A; p.L149M; 19:58352451-58352451 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.417C>A; p.C139*; 19:58352479-58352479 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.571G>A; p.A191T; 19:58352325-58352325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.571G>A; p.A191T; 19:58352325-58352325 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.571G>A; p.A191T; 19:58352325-58352325 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.466C>A; p.H156N; 19:58352430-58352430 |
liver | carcinoma | Substitution - Missense |
c.1397G>A; p.G466D; 19:58347436-58347436 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.466C>A; p.H156N; 19:58352430-58352430 |
liver | carcinoma | Substitution - Missense |
c.1397G>A; p.G466D; 19:58347436-58347436 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.887C>T; p.P296L; 19:58351414-58351414 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.717G>A; p.V239V; 19:58351584-58351584 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.122C>T; p.P41L; 19:58353146-58353146 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1460C>A; p.P487H; 19:58347373-58347373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.122C>T; p.P41L; 19:58353146-58353146 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1347C>T; p.P449P; 19:58347486-58347486 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.192G>A; p.G64G; 19:58353076-58353076 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.155A>G; p.H52R; 19:58353113-58353113 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
thyroid | other; neoplasm | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
thyroid | other; neoplasm | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
thyroid | other; neoplasm | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
thyroid | other; neoplasm | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.832A>C; p.T278P; 19:58351469-58351469 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.418C>T; p.R140*; 19:58352478-58352478 |
kidney | other; neoplasm | Substitution - Nonsense |
c.525T>C; p.H175H; 19:58352371-58352371 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.889G>A; p.V297I; 19:58351412-58351412 |
skin | malignant_melanoma | Substitution - Missense |
c.281G>A; p.R94H; 19:58352987-58352987 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.892G>A; p.E298K; 19:58351409-58351409 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.R245C; 19:58351568-58351568 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.R245C; 19:58351568-58351568 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132G>A; p.D378N; 19:58350430-58350430 |
NS | malignant_melanoma | Substitution - Missense |
c.883G>A; p.A295T; 19:58351418-58351418 |
stomach | adenocarcinoma | Substitution - Missense |
c.883G>A; p.A295T; 19:58351418-58351418 |
breast | carcinoma | Substitution - Missense |
c.760delA; p.R254fs*13; 19:58351541-58351541 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.553C>T; p.R185W; 19:58352343-58352343 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>T; p.R282W; 19:58351457-58351457 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844C>T; p.R282W; 19:58351457-58351457 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.306C>A; p.T102T; 19:58352962-58352962 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.480G>A; p.E160E; 19:58352416-58352416 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1456G>A; p.D486N; 19:58347377-58347377 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.452G>A; p.R151K; 19:58352444-58352444 |
skin | malignant_melanoma | Substitution - Missense |
c.544T>A; p.C182S; 19:58352352-58352352 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1305G>A; p.L435L; 19:58347528-58347528 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.544T>A; p.C182S; 19:58352352-58352352 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.781C>T; p.R261C; 19:58351520-58351520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.121_122insA; p.P41fs*33; 19:58353146-58353147 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.804G>T; p.A268A; 19:58351497-58351497 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1149C>T; p.F383F; 19:58350413-58350413 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1390C>T; p.H464Y; 19:58347443-58347443 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.770C>A; p.T257N; 19:58351531-58351531 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.674G>A; p.G225D; 19:58351627-58351627 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1159G>A; p.A387T; 19:58350403-58350403 |
pancreas | carcinoma | Substitution - Missense |
c.1278C>A; p.P426P; 19:58347555-58347555 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.871T>G; p.S291A; 19:58351430-58351430 |
pancreas | carcinoma | Substitution - Missense |
c.891C>T; p.V297V; 19:58351410-58351410 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.268C>T; p.R90C; 19:58353000-58353000 |
breast | carcinoma | Substitution - Missense |
c.1334C>T; p.T445M; 19:58347499-58347499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.393delC; p.G132fs*2; 19:58352503-58352503 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.570C>T; p.G190G; 19:58352326-58352326 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1017G>T; p.E339D; 19:58350545-58350545 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.570C>T; p.G190G; 19:58352326-58352326 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.570C>T; p.G190G; 19:58352326-58352326 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.347T>A; p.L116*; 19:58352549-58352549 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1422C>T; p.S474S; 19:58347411-58347411 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1152G>A; p.G384G; 19:58350410-58350410 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.803C>T; p.A268V; 19:58351498-58351498 |
liver | carcinoma | Substitution - Missense |
c.803C>T; p.A268V; 19:58351498-58351498 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.803C>T; p.A268V; 19:58351498-58351498 |
liver | carcinoma | Substitution - Missense |