| Gene ID | 1471 |
| Symbol | CST3 |
| Synonymous | ARMD11 |
| Full name | cystatin C |
| Gene description | bA218C14.4 (cystatin C)|cystatin 3|cystatin-3|cystatin-C|gamma-trace|neuroendocrine basic polypeptide|post-gamma-globulin |
| Cytoband | 20p11.21 |
| Gene type | protein-coding |
| Synonymous | MIM:604312; HGNC:HGNC:2475; Ensembl:ENSG00000101439; HPRD:05056; Vega:OTTHUMG00000032080 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.399G>T; p.Q133H; 20:23633958-23633958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.267C>A; p.F89L; 20:23635344-23635344 |
breast | carcinoma | Substitution - Missense |
c.73G>A; p.A25T; 20:23637790-23637790 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.73G>A; p.A25T; 20:23637790-23637790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.73G>A; p.A25T; 20:23637790-23637790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.73G>A; p.A25T; 20:23637790-23637790 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.73G>A; p.A25T; 20:23637790-23637790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.417G>A; p.S139S; 20:23633940-23633940 |
skin | malignant_melanoma | Substitution - coding silent |
c.440A>T; p.*147L; 20:23633917-23633917 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Nonstop extension |
c.431A>T; p.Q144L; 20:23633926-23633926 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.366C>T; p.F122F; 20:23633991-23633991 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.246C>T; p.I82I; 20:23635365-23635365 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.246C>T; p.I82I; 20:23635365-23635365 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.416C>T; p.S139L; 20:23633941-23633941 |
breast | carcinoma | Substitution - Missense |
c.357+1G>T; p.?; 20:23635253-23635253 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.105A>G; p.L35L; 20:23637758-23637758 |
thyroid | other; neoplasm | Substitution - coding silent |
c.105A>G; p.L35L; 20:23637758-23637758 |
thyroid | other; neoplasm | Substitution - coding silent |
c.105A>G; p.L35L; 20:23637758-23637758 |
thyroid | other; neoplasm | Substitution - coding silent |
c.105A>G; p.L35L; 20:23637758-23637758 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.359A>T; p.K120I; 20:23633998-23633998 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.46G>A; p.A16T; 20:23637817-23637817 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.287G>A; p.R96Q; 20:23635324-23635324 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.435C>T; p.D145D; 20:23633922-23633922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.435C>T; p.D145D; 20:23633922-23633922 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |