| Gene ID | 9074 |
| Symbol | CLDN6 |
| Synonymous | - |
| Full name | claudin 6 |
| Gene description | claudin-6|skullin |
| Cytoband | 16p13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:615798; HGNC:HGNC:2048; Ensembl:ENSG00000184697; HPRD:13070 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.95T>G; p.V32G; 16:3015927-3015927 |
breast | carcinoma | Substitution - Missense |
c.159C>T; p.S53S; 16:3015863-3015863 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.273C>A; p.A91A; 16:3015749-3015749 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.508G>A; p.A170T; 16:3015514-3015514 |
skin | malignant_melanoma | Substitution - Missense |
c.226G>A; p.D76N; 16:3015796-3015796 |
skin | malignant_melanoma | Substitution - Missense |
c.434G>A; p.R145Q; 16:3015588-3015588 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.427A>G; p.I143V; 16:3015595-3015595 |
breast | carcinoma | Substitution - Missense |
c.427A>G; p.I143V; 16:3015595-3015595 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.427A>G; p.I143V; 16:3015595-3015595 |
thyroid | other; neoplasm | Substitution - Missense |
c.427A>G; p.I143V; 16:3015595-3015595 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.216G>T; p.A72A; 16:3015806-3015806 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.403C>G; p.P135A; 16:3015619-3015619 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.419C>T; p.A140V; 16:3015603-3015603 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.419C>T; p.A140V; 16:3015603-3015603 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.472C>G; p.R158G; 16:3015550-3015550 |
skin | malignant_melanoma | Substitution - Missense |
c.305C>T; p.A102V; 16:3015717-3015717 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.635C>T; p.S212F; 16:3015387-3015387 |
skin | malignant_melanoma | Substitution - Missense |
c.602C>G; p.S201*; 16:3015420-3015420 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.345C>T; p.A115A; 16:3015677-3015677 |
pancreas | carcinoma | Substitution - coding silent |
c.367A>C; p.I123L; 16:3015655-3015655 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>A; p.V220I; 16:3015364-3015364 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>A; p.V220I; 16:3015364-3015364 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>A; p.V220I; 16:3015364-3015364 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.330G>A; p.E110E; 16:3015692-3015692 |
skin | malignant_melanoma | Substitution - coding silent |
c.19C>A; p.Q7K; 16:3016003-3016003 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420G>A; p.A140A; 16:3015602-3015602 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.365G>A; p.G122E; 16:3015657-3015657 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.124G>A; p.V42M; 16:3015898-3015898 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.557C>T; p.P186L; 16:3015465-3015465 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.266T>G; p.L89R; 16:3015756-3015756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.255C>T; p.V85V; 16:3015767-3015767 |
skin | malignant_melanoma | Substitution - coding silent |
c.102T>C; p.A34A; 16:3015920-3015920 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.102T>C; p.A34A; 16:3015920-3015920 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.75T>C; p.C25C; 16:3015947-3015947 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.357C>T; p.L119L; 16:3015665-3015665 |
breast | carcinoma | Substitution - coding silent |
c.88T>C; p.W30R; 16:3015934-3015934 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.217C>T; p.L73L; 16:3015805-3015805 |
ovary | other; neoplasm | Substitution - coding silent |
c.456G>A; p.V152V; 16:3015566-3015566 |
skin | malignant_melanoma | Substitution - coding silent |
c.318C>G; p.T106T; 16:3015704-3015704 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.328G>A; p.E110K; 16:3015694-3015694 |
skin | malignant_melanoma | Substitution - Missense |
c.135G>T; p.V45V; 16:3015887-3015887 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.196G>A; p.V66M; 16:3015826-3015826 |
skin | malignant_melanoma | Substitution - Missense |
c.506C>T; p.A169V; 16:3015516-3015516 |
breast | carcinoma | Substitution - Missense |
c.276G>C; p.L92L; 16:3015746-3015746 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.626G>T; p.R209L; 16:3015396-3015396 |
prostate | carcinoma | Substitution - Missense |
c.157T>A; p.S53T; 16:3015865-3015865 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.177C>G; p.T59T; 16:3015845-3015845 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.177C>G; p.T59T; 16:3015845-3015845 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.38T>C; p.L13P; 16:3015984-3015984 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.265C>T; p.L89F; 16:3015757-3015757 |
breast | carcinoma | Substitution - Missense |
c.274C>T; p.L92L; 16:3015748-3015748 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.651G>C; p.K217N; 16:3015371-3015371 |
breast | carcinoma | Substitution - Missense |
c.596G>A; p.R199H; 16:3015426-3015426 |
thyroid | carcinoma | Substitution - Missense |
c.445A>G; p.N149D; 16:3015577-3015577 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.216G>A; p.A72A; 16:3015806-3015806 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.216G>A; p.A72A; 16:3015806-3015806 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.85A>C; p.M29L; 16:3015937-3015937 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.295C>T; p.L99F; 16:3015727-3015727 |
skin | malignant_melanoma | Substitution - Missense |
c.565G>A; p.G189R; 16:3015457-3015457 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.39G>A; p.L13L; 16:3015983-3015983 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.627G>A; p.R209R; 16:3015395-3015395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.569C>T; p.S190F; 16:3015453-3015453 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.511T>C; p.S171P; 16:3015511-3015511 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.657C>T; p.Y219Y; 16:3015365-3015365 |
stomach | adenocarcinoma | Substitution - coding silent |
c.120C>T; p.I40I; 16:3015902-3015902 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.651G>T; p.K217N; 16:3015371-3015371 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.418G>A; p.A140T; 16:3015604-3015604 |
skin | malignant_melanoma | Substitution - Missense |
c.271G>A; p.A91T; 16:3015751-3015751 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.560C>A; p.S187*; 16:3015462-3015462 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.156G>C; p.M52I; 16:3015866-3015866 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.537delG; p.L180fs*>41; 16:3015485-3015485 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.395C>T; p.T132M; 16:3015627-3015627 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.144G>T; p.E48D; 16:3015878-3015878 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.162C>T; p.C54C; 16:3015860-3015860 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.163G>A; p.V55M; 16:3015859-3015859 |
pancreas | carcinoma | Substitution - Missense |
c.338C>T; p.S113F; 16:3015684-3015684 |
skin | malignant_melanoma | Substitution - Missense |
c.99C>T; p.T33T; 16:3015923-3015923 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.99C>T; p.T33T; 16:3015923-3015923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |