| Gene ID | 3135 |
| Symbol | HLA-G |
| Synonymous | MHC-G |
| Full name | major histocompatibility complex, class I, G |
| Gene description | HLA G antigen|HLA class I histocompatibility antigen, alpha chain G|HLA class I molecule|HLA-G histocompatibility antigen, class I, G|MHC class I antigen G|b2 microglobulin |
| Cytoband | 6p21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:142871; HGNC:HGNC:4964; Ensembl:ENSG00000204632; HPRD:00834; Vega:OTTHUMG00000031157 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.201G>A; p.P67P; 6:29828174-29828174 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.831G>A; p.E277E; 6:29829629-29829629 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.933C>T; p.I311I; 6:29829853-29829853 |
skin | malignant_melanoma | Substitution - coding silent |
c.933C>T; p.I311I; 6:29829853-29829853 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.902C>A; p.S301Y; 6:29829822-29829822 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.20G>A; p.R7Q; 6:29827864-29827864 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.906C>T; p.S302S; 6:29829826-29829826 |
skin | malignant_melanoma | Substitution - coding silent |
c.351C>T; p.H117H; 6:29828550-29828550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.351C>T; p.H117H; 6:29828550-29828550 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1002G>A; p.K334K; 6:29829922-29829922 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1012G>T; p.D338Y; 6:29829932-29829932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1012G>T; p.D338Y; 6:29829932-29829932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.871C>T; p.P291S; 6:29829669-29829669 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1012G>T; p.D338Y; 6:29829932-29829932 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1012+1G>T; p.?; 6:29829933-29829933 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.674T>A; p.L225Q; 6:29829472-29829472 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.258G>T; p.E86D; 6:29828231-29828231 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.601G>A; p.E201K; 6:29828800-29828800 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405C>T; p.R135R; 6:29828604-29828604 |
breast | carcinoma | Substitution - coding silent |
c.763G>T; p.V255L; 6:29829561-29829561 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.763G>T; p.V255L; 6:29829561-29829561 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.925A>G; p.M309V; 6:29829845-29829845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.925A>G; p.M309V; 6:29829845-29829845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.925A>G; p.M309V; 6:29829845-29829845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.925A>G; p.M309V; 6:29829845-29829845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.925A>G; p.M309V; 6:29829845-29829845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.925A>G; p.M309V; 6:29829845-29829845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.925A>G; p.M309V; 6:29829845-29829845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.925A>G; p.M309V; 6:29829845-29829845 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.540G>A; p.R180R; 6:29828739-29828739 |
skin | malignant_melanoma | Substitution - coding silent |
c.617C>G; p.A206G; 6:29828816-29828816 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.159C>T; p.D53D; 6:29828132-29828132 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.949G>C; p.V317L; 6:29829869-29829869 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.791C>T; p.T264I; 6:29829589-29829589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.791C>T; p.T264I; 6:29829589-29829589 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.203G>A; p.R68K; 6:29828176-29828176 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.621C>T; p.D207D; 6:29829419-29829419 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.956C>G; p.A319G; 6:29829876-29829876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.956C>G; p.A319G; 6:29829876-29829876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.956C>G; p.A319G; 6:29829876-29829876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.956C>G; p.A319G; 6:29829876-29829876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.956C>G; p.A319G; 6:29829876-29829876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.744G>T; p.Q248H; 6:29829542-29829542 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.956C>G; p.A319G; 6:29829876-29829876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.956C>G; p.A319G; 6:29829876-29829876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.956C>G; p.A319G; 6:29829876-29829876 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.47C>T; p.A16V; 6:29827891-29827891 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.65C>G; p.T22S; 6:29827909-29827909 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.786T>C; p.D262D; 6:29829584-29829584 |
prostate | carcinoma | Substitution - coding silent |
c.479C>T; p.A160V; 6:29828678-29828678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.400C>A; p.L134I; 6:29828599-29828599 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.400C>A; p.L134I; 6:29828599-29828599 |
thyroid | other; neoplasm | Substitution - Missense |
c.400C>A; p.L134I; 6:29828599-29828599 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.430G>A; p.G144S; 6:29828629-29828629 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.905C>T; p.S302F; 6:29829825-29829825 |
skin | malignant_melanoma | Substitution - Missense |
c.905C>T; p.S302F; 6:29829825-29829825 |
skin | malignant_melanoma | Substitution - Missense |
c.861T>C; p.H287H; 6:29829659-29829659 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.704C>T; p.A235V; 6:29829502-29829502 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.899A>C; p.Q300P; 6:29829819-29829819 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.873G>A; p.P291P; 6:29829671-29829671 |
thyroid | other; neoplasm | Substitution - coding silent |
c.498C>T; p.I166I; 6:29828697-29828697 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.475G>A; p.A159T; 6:29828674-29828674 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.898C>A; p.Q300K; 6:29829818-29829818 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.475G>A; p.A159T; 6:29828674-29828674 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.475G>A; p.A159T; 6:29828674-29828674 |
prostate | carcinoma | Substitution - Missense |
c.15G>A; p.A5A; 6:29827859-29827859 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.938C>A; p.A313D; 6:29829858-29829858 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.678G>T; p.R226S; 6:29829476-29829476 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.339G>A; p.E113E; 6:29828312-29828312 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.75C>G; p.G25G; 6:29828048-29828048 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.999A>G; p.R333R; 6:29829919-29829919 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.942C>T; p.G314G; 6:29829862-29829862 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.75C>G; p.G25G; 6:29828048-29828048 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.36G>A; p.L12L; 6:29827880-29827880 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.36G>A; p.L12L; 6:29827880-29827880 |
thyroid | other; neoplasm | Substitution - coding silent |
c.977C>T; p.A326V; 6:29829897-29829897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.734G>A; p.G245E; 6:29829532-29829532 |
skin | malignant_melanoma | Substitution - Missense |
c.977C>T; p.A326V; 6:29829897-29829897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.977C>T; p.A326V; 6:29829897-29829897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.977C>T; p.A326V; 6:29829897-29829897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.977C>T; p.A326V; 6:29829897-29829897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.282C>T; p.H94H; 6:29828255-29828255 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.977C>T; p.A326V; 6:29829897-29829897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.977C>T; p.A326V; 6:29829897-29829897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.977C>T; p.A326V; 6:29829897-29829897 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.636C>A; p.H212Q; 6:29829434-29829434 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.461T>C; p.L154P; 6:29828660-29828660 |
skin | malignant_melanoma | Substitution - Missense |
c.980T>C; p.V327A; 6:29829900-29829900 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1015T>A; p.*339R; 6:29830380-29830380 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Nonstop extension |
c.1015T>A; p.*339R; 6:29830380-29830380 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Nonstop extension |
c.1015T>A; p.*339R; 6:29830380-29830380 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Nonstop extension |
c.1015T>A; p.*339R; 6:29830380-29830380 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Nonstop extension |
c.1015T>A; p.*339R; 6:29830380-29830380 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Nonstop extension |
c.1015T>A; p.*339R; 6:29830380-29830380 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Nonstop extension |
c.1015T>A; p.*339R; 6:29830380-29830380 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Nonstop extension |
c.680G>C; p.C227S; 6:29829478-29829478 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.981C>T; p.V327V; 6:29829901-29829901 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.636C>T; p.H212H; 6:29829434-29829434 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.981C>T; p.V327V; 6:29829901-29829901 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.981C>T; p.V327V; 6:29829901-29829901 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.392G>A; p.G131E; 6:29828591-29828591 |
skin | malignant_melanoma | Substitution - Missense |
c.991C>A; p.L331M; 6:29829911-29829911 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.991C>A; p.L331M; 6:29829911-29829911 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.886C>T; p.L296L; 6:29829684-29829684 |
skin | malignant_melanoma | Substitution - coding silent |
c.239G>T; p.G80V; 6:29828212-29828212 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.765G>C; p.V255V; 6:29829563-29829563 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.765G>C; p.V255V; 6:29829563-29829563 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.52A>C; p.T18P; 6:29827896-29827896 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.908T>A; p.L303Q; 6:29829828-29829828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.908T>A; p.L303Q; 6:29829828-29829828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.908T>A; p.L303Q; 6:29829828-29829828 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.168G>T; p.Q56H; 6:29828141-29828141 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.157G>T; p.D53Y; 6:29828130-29828130 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.648C>A; p.H216Q; 6:29829446-29829446 |
breast | carcinoma | Substitution - Missense |
c.544G>A; p.A182T; 6:29828743-29828743 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.243G>A; p.P81P; 6:29828216-29828216 |
thyroid | other; neoplasm | Substitution - coding silent |
c.615C>T; p.R205R; 6:29828814-29828814 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.615C>T; p.R205R; 6:29828814-29828814 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.519G>A; p.A173A; 6:29828718-29828718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.910C>T; p.P304S; 6:29829830-29829830 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.620_621insC; p.K210fs*11; 6:29829418-29829419 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.145A>G; p.M49V; 6:29828118-29828118 |
prostate | carcinoma | Substitution - Missense |
c.165G>A; p.T55T; 6:29828138-29828138 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.176G>A; p.R59Q; 6:29828149-29828149 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.354C>T; p.T118T; 6:29828553-29828553 |
skin | malignant_melanoma | Substitution - coding silent |
c.978G>T; p.A326A; 6:29829898-29829898 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.459delC; p.L154fs*60; 6:29828658-29828658 |
breast | carcinoma | Deletion - Frameshift |
c.459delC; p.L154fs*60; 6:29828658-29828658 |
pancreas | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.316C>T; p.R106C; 6:29828289-29828289 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.111C>T; p.S37S; 6:29828084-29828084 |
skin | malignant_melanoma | Substitution - coding silent |
c.60C>A; p.T20T; 6:29827904-29827904 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.667G>A; p.A223T; 6:29829465-29829465 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.982G>C; p.A328P; 6:29829902-29829902 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.244G>A; p.E82K; 6:29828217-29828217 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.75C>A; p.G25G; 6:29828048-29828048 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |