| Gene ID | 3292 |
| Symbol | HSD17B1 |
| Synonymous | EDH17B2|EDHB17|HSD17|SDR28C1 |
| Full name | hydroxysteroid (17-beta) dehydrogenase 1 |
| Gene description | 17-beta-HSD 1|17-beta-hydroxysteroid dehydrogenase type 1|20 alpha-hydroxysteroid dehydrogenase|20-alpha-HSD|E2DH|estradiol 17-beta-dehydrogenase 1|estradiol 17-beta-dehydrogenase-1|hydroxysteroid (17-beta) dehydrogenase 1 isoform|placental 17-beta-hydrox |
| Cytoband | 17q11-q21 |
| Gene type | protein-coding |
| Synonymous | MIM:109684; HGNC:HGNC:5210; HPRD:00185 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.605A>G; p.E202G; 17:42554470-42554470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.856G>C; p.G286R; 17:42554807-42554807 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.755T>G; p.L252R; 17:42554706-42554706 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.410G>A; p.R137H; 17:42553583-42553583 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.240G>A; p.V80V; 17:42553266-42553266 |
skin | malignant_melanoma | Substitution - coding silent |
c.558C>T; p.C186C; 17:42554423-42554423 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.259G>A; p.V87M; 17:42553285-42553285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.297G>A; p.P99P; 17:42553470-42553470 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.808G>A; p.D270N; 17:42554759-42554759 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.214T>C; p.S72P; 17:42553240-42553240 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.122A>G; p.K41R; 17:42553148-42553148 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.703_705delGAG; p.E236delE; 17:42554568-42554570 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.79C>A; p.P27T; 17:42553012-42553012 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.439T>C; p.L147L; 17:42553612-42553612 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.416T>C; p.L139S; 17:42553589-42553589 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.770C>T; p.T257I; 17:42554721-42554721 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.170C>T; p.P57L; 17:42553196-42553196 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.215C>T; p.S72F; 17:42553241-42553241 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.98-10A>T; p.?; 17:42553114-42553114 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.250C>T; p.R84C; 17:42553276-42553276 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.250C>T; p.R84C; 17:42553276-42553276 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.320C>T; p.A107V; 17:42553493-42553493 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.258C>T; p.D86D; 17:42553284-42553284 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.617A>C; p.D206A; 17:42554482-42554482 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.198C>T; p.D66D; 17:42553224-42553224 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.400G>A; p.G134S; 17:42553573-42553573 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.606G>T; p.E202D; 17:42554471-42554471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.530T>C; p.F177S; 17:42553878-42553878 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.774G>A; p.E258E; 17:42554725-42554725 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.462C>T; p.D154D; 17:42553810-42553810 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.273C>T; p.N91N; 17:42553446-42553446 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.182A>G; p.E61G; 17:42553208-42553208 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.78T>C; p.D26D; 17:42553011-42553011 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.144G>T; p.E48D; 17:42553170-42553170 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.296_304delCGCTGGAGG; p.E101_L103delEAL; 17:42553469-42553477 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - In frame |
c.695A>G; p.Q232R; 17:42554560-42554560 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.75A>G; p.S25S; 17:42553008-42553008 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.24C>T; p.I8I; 17:42552957-42552957 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.947G>A; p.G316E; 17:42554898-42554898 |
NS | malignant_melanoma | Substitution - Missense |
c.552C>G; p.I184M; 17:42554417-42554417 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.339C>T; p.D113D; 17:42553512-42553512 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.877G>A; p.E293K; 17:42554828-42554828 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.186G>A; p.T62T; 17:42553212-42553212 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.643C>A; p.R215S; 17:42554508-42554508 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
breast | carcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
thyroid | other; neoplasm | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.G313S; 17:42554888-42554888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.26C>G; p.T9S; 17:42552959-42552959 |
urinary_tract; bladder | carcinoma | Substitution - Missense |