| Gene ID | 1113 |
| Symbol | CHGA |
| Synonymous | CGA |
| Full name | chromogranin A |
| Gene description | SP-I|betagranin (N-terminal fragment of chromogranin A)|catestatin|chromofungin|chromogranin-A|parathyroid secretory protein 1|pituitary secretory protein I |
| Cytoband | 14q32 |
| Gene type | protein-coding |
| Synonymous | MIM:118910; HGNC:HGNC:1929; Ensembl:ENSG00000100604; HPRD:07170; Vega:OTTHUMG00000171225 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.250C>T; p.L84F; 14:92927612-92927612 |
skin | malignant_melanoma | Substitution - Missense |
c.707A>C; p.E236A; 14:92931601-92931601 |
liver | carcinoma | Substitution - Missense |
c.1181G>A; p.W394*; 14:92932742-92932742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.277C>T; p.Q93*; 14:92929737-92929737 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.277C>T; p.Q93*; 14:92929737-92929737 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Nonsense |
c.1174C>T; p.R392*; 14:92932735-92932735 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.816G>A; p.S272S; 14:92932377-92932377 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.816G>A; p.S272S; 14:92932377-92932377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.53C>T; p.A18V; 14:92924205-92924205 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.430G>A; p.E144K; 14:92931324-92931324 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.84G>A; p.G28G; 14:92924236-92924236 |
skin | malignant_melanoma | Substitution - coding silent |
c.1264G>A; p.E422K; 14:92932825-92932825 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264G>A; p.E422K; 14:92932825-92932825 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.715G>C; p.A239P; 14:92931609-92931609 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.135C>A; p.S45S; 14:92926646-92926646 |
breast | carcinoma | Substitution - coding silent |
c.11C>T; p.A4V; 14:92923370-92923370 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.825G>A; p.L275L; 14:92932386-92932386 |
skin | malignant_melanoma | Substitution - coding silent |
c.520_522delGAG; p.E174delE; 14:92931414-92931416 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.520_522delGAG; p.E174delE; 14:92931414-92931416 |
breast | carcinoma | Deletion - In frame |
c.520_522delGAG; p.E174delE; 14:92931414-92931416 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.443G>A; p.G148E; 14:92931337-92931337 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.228G>A; p.L76L; 14:92927590-92927590 |
skin | malignant_melanoma | Substitution - coding silent |
c.159C>G; p.S53R; 14:92926670-92926670 |
skin | malignant_melanoma | Substitution - Missense |
c.625G>A; p.G209S; 14:92931519-92931519 |
thyroid | other; neoplasm | Substitution - Missense |
c.687G>A; p.E229E; 14:92931581-92931581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.687G>A; p.E229E; 14:92931581-92931581 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.602G>A; p.G201E; 14:92931496-92931496 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.212G>T; p.R71I; 14:92927574-92927574 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.212G>T; p.R71I; 14:92927574-92927574 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1059G>A; p.T353T; 14:92932620-92932620 |
skin | malignant_melanoma | Substitution - coding silent |
c.1231G>A; p.V411I; 14:92932792-92932792 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.976G>A; p.E326K; 14:92932537-92932537 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.122C>A; p.S41Y; 14:92926633-92926633 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.215A>T; p.H72L; 14:92927577-92927577 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1193C>A; p.S398Y; 14:92932754-92932754 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.877G>C; p.G293R; 14:92932438-92932438 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919G>A; p.E307K; 14:92932480-92932480 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.545A>G; p.N182S; 14:92931439-92931439 |
skin | malignant_melanoma | Substitution - Missense |
c.539C>T; p.A180V; 14:92931433-92931433 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1095G>C; p.E365D; 14:92932656-92932656 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.279G>A; p.Q93Q; 14:92929739-92929739 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1003G>A; p.E335K; 14:92932564-92932564 |
pancreas | carcinoma | Substitution - Missense |
c.1003G>A; p.E335K; 14:92932564-92932564 |
pancreas | carcinoma | Substitution - Missense |
c.1193C>T; p.S398F; 14:92932754-92932754 |
skin | malignant_melanoma | Substitution - Missense |
c.134C>T; p.S45F; 14:92926645-92926645 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.294C>T; p.S98S; 14:92929754-92929754 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.685_686insGAG; p.E228_E229insG; 14:92931579-92931580 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - In frame |
c.792G>T; p.E264D; 14:92931686-92931686 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.95T>C; p.V32A; 14:92926606-92926606 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.442G>A; p.G148R; 14:92931336-92931336 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.442G>A; p.G148R; 14:92931336-92931336 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.360G>A; p.A120A; 14:92931254-92931254 |
breast | carcinoma | Substitution - coding silent |
c.442G>A; p.G148R; 14:92931336-92931336 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.738_739GG>AA; p.E247K; 14:92931632-92931633 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.388A>G; p.M130V; 14:92931282-92931282 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.608G>C; p.S203T; 14:92931502-92931502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.110T>C; p.V37A; 14:92926621-92926621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.436A>G; p.T146A; 14:92931330-92931330 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1298A>T; p.E433V; 14:92934808-92934808 |
skin; leg | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.613G>A; p.G205S; 14:92931507-92931507 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.703G>A; p.E235K; 14:92931597-92931597 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | Substitution - Missense |
c.398G>T; p.R133I; 14:92931292-92931292 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.692A>C; p.E231A; 14:92931586-92931586 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.684_685insGAG; p.E236_A237insE; 14:92931578-92931579 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - In frame |
c.259G>A; p.A87T; 14:92929719-92929719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1367_1368GG>AA; p.R456Q; 14:92934877-92934878 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.873C>T; p.P291P; 14:92932434-92932434 |
pancreas | carcinoma | Substitution - coding silent |
c.995T>C; p.L332P; 14:92932556-92932556 |
thyroid | other; neoplasm | Substitution - Missense |
c.124G>A; p.D42N; 14:92926635-92926635 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.807G>C; p.E269D; 14:92931701-92931701 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1050G>T; p.K350N; 14:92932611-92932611 |
skin | malignant_melanoma | Substitution - Missense |
c.173A>G; p.E58G; 14:92926684-92926684 |
skin | malignant_melanoma | Substitution - Missense |
c.1323A>G; p.E441E; 14:92934833-92934833 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1323A>G; p.E441E; 14:92934833-92934833 |
thyroid | other; neoplasm | Substitution - coding silent |
c.96G>A; p.V32V; 14:92926607-92926607 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.382G>C; p.D128H; 14:92931276-92931276 |
ovary | other; neoplasm | Substitution - Missense |
c.232G>A; p.E78K; 14:92927594-92927594 |
skin | malignant_melanoma | Substitution - Missense |
c.1134C>A; p.A378A; 14:92932695-92932695 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.54G>A; p.A18A; 14:92924206-92924206 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.54G>A; p.A18A; 14:92924206-92924206 |
breast | carcinoma | Substitution - coding silent |
c.817G>C; p.E273Q; 14:92932378-92932378 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.817G>C; p.E273Q; 14:92932378-92932378 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.730G>T; p.V244F; 14:92931624-92931624 |
thyroid | other; neoplasm | Substitution - Missense |
c.1366C>T; p.R456W; 14:92934876-92934876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.G240R; 14:92931612-92931612 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |