| Gene ID | 1475 |
| Symbol | CSTA |
| Synonymous | AREI|STF1|STFA |
| Full name | cystatin A (stefin A) |
| Gene description | cystatin AS|cystatin-A |
| Cytoband | 3q21 |
| Gene type | protein-coding |
| Synonymous | MIM:184600; HGNC:HGNC:2481; Ensembl:ENSG00000121552; HPRD:01697; Vega:OTTHUMG00000159488 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.287C>T; p.T96M; 3:122341557-122341557 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.259G>C; p.V87L; 3:122341529-122341529 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.279C>T; p.D93D; 3:122341549-122341549 |
breast | carcinoma | Substitution - coding silent |
c.279C>T; p.D93D; 3:122341549-122341549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.114G>C; p.L38F; 3:122337594-122337594 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.114G>C; p.L38F; 3:122337594-122337594 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.209T>G; p.F70C; 3:122341479-122341479 |
pancreas | carcinoma | Substitution - Missense |
c.223G>A; p.G75R; 3:122341493-122341493 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.223G>A; p.G75R; 3:122341493-122341493 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.78G>A; p.Q26Q; 3:122337558-122337558 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.45A>C; p.E15D; 3:122325337-122325337 |
skin | malignant_melanoma | Substitution - Missense |
c.131A>G; p.K44R; 3:122337611-122337611 |
kidney | other; neoplasm | Substitution - Missense |
c.173G>A; p.R58Q; 3:122341443-122341443 |
skin | malignant_melanoma | Substitution - Missense |
c.89A>C; p.K30T; 3:122337569-122337569 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.291C>T; p.G97G; 3:122341561-122341561 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.80T>C; p.L27P; 3:122337560-122337560 |
skin | malignant_melanoma | Substitution - Missense |
c.30_31insC; p.A12fs*10; 3:122325322-122325323 |
lung | carcinoid-endocrine_tumour; typical | Insertion - Frameshift |
c.3G>A; p.M1I; 3:122325295-122325295 |
skin | malignant_melanoma | Substitution - Missense |
c.3G>A; p.M1I; 3:122325295-122325295 |
skin | malignant_melanoma | Substitution - Missense |
c.210C>A; p.F70L; 3:122341480-122341480 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.194T>C; p.M65T; 3:122341464-122341464 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.176C>T; p.A59V; 3:122341446-122341446 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.264C>T; p.D88D; 3:122341534-122341534 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.30A>C; p.K10N; 3:122325322-122325322 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30A>C; p.K10N; 3:122325322-122325322 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30A>C; p.K10N; 3:122325322-122325322 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30A>C; p.K10N; 3:122325322-122325322 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30A>C; p.K10N; 3:122325322-122325322 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30A>C; p.K10N; 3:122325322-122325322 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30A>C; p.K10N; 3:122325322-122325322 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.30A>C; p.K10N; 3:122325322-122325322 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |