| Gene ID | 1366 |
| Symbol | CLDN7 |
| Synonymous | CEPTRL2|CLDN-7|CPETRL2|Hs.84359|claudin-1 |
| Full name | claudin 7 |
| Gene description | claudin-7|clostridium perfringens enterotoxin receptor-like 2 |
| Cytoband | 17p13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:609131; HGNC:HGNC:2049; Ensembl:ENSG00000181885; HPRD:07633; Vega:OTTHUMG00000178005 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.90G>A; p.W30*; 17:7261954-7261954 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.90G>A; p.W30*; 17:7261954-7261954 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.378C>T; p.F126F; 17:7260831-7260831 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.315G>A; p.T105T; 17:7260894-7260894 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.19C>A; p.Q7K; 17:7262025-7262025 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.528C>T; p.I176I; 17:7260482-7260482 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.517G>A; p.A173T; 17:7260493-7260493 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.587G>C; p.R196P; 17:7260423-7260423 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.350G>A; p.R117H; 17:7260859-7260859 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.271G>A; p.G91S; 17:7260938-7260938 |
skin | malignant_melanoma | Substitution - Missense |
c.339G>T; p.V113V; 17:7260870-7260870 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.606T>A; p.P202P; 17:7260404-7260404 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.439G>T; p.D147Y; 17:7260676-7260676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.622A>G; p.K208E; 17:7260388-7260388 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.633G>A; p.V211V; 17:7260377-7260377 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.203A>G; p.D68G; 17:7261841-7261841 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.537T>G; p.G179G; 17:7260473-7260473 |
ovary | other; neoplasm | Substitution - coding silent |
c.514T>G; p.S172A; 17:7260496-7260496 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.514T>G; p.S172A; 17:7260496-7260496 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.514T>G; p.S172A; 17:7260496-7260496 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.514T>G; p.S172A; 17:7260496-7260496 |
skin | malignant_melanoma | Substitution - Missense |
c.373A>C; p.I125L; 17:7260836-7260836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.603C>T; p.Y201Y; 17:7260407-7260407 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.606T>G; p.P202P; 17:7260404-7260404 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |