| Gene ID | 27346 |
| Symbol | TMEM97 |
| Synonymous | MAC30 |
| Full name | transmembrane protein 97 |
| Gene description | - |
| Cytoband | 17q11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:612912; HGNC:HGNC:28106; Ensembl:ENSG00000109084; HPRD:14343; Vega:OTTHUMG00000132497 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.290G>A; p.R97Q; 17:28326552-28326552 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.426C>T; p.T142T; 17:28326688-28326688 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.264C>T; p.F88F; 17:28325640-28325640 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.518_519insA; p.*177fs?; 17:28326780-28326781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.518_519insA; p.*177fs?; 17:28326780-28326781 |
skin | malignant_melanoma | Insertion - Frameshift |
c.148T>C; p.Y50H; 17:28325524-28325524 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.338C>T; p.P113L; 17:28326600-28326600 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.487C>T; p.R163W; 17:28326749-28326749 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.487C>T; p.R163W; 17:28326749-28326749 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.57C>T; p.L19L; 17:28319296-28319296 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.519delA; p.K176fs?; 17:28326781-28326781 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.217G>T; p.E73*; 17:28325593-28325593 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.97G>C; p.V33L; 17:28319336-28319336 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.59G>T; p.S20I; 17:28319298-28319298 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.401C>T; p.P134L; 17:28326663-28326663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.112C>G; p.L38V; 17:28319351-28319351 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.183G>A; p.E61E; 17:28325559-28325559 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.10C>G; p.P4A; 17:28319249-28319249 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.219G>A; p.E73E; 17:28325595-28325595 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7G>T; p.A3S; 17:28319246-28319246 |
liver | carcinoma | Substitution - Missense |
c.7G>T; p.A3S; 17:28319246-28319246 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7G>T; p.A3S; 17:28319246-28319246 |
liver | carcinoma | Substitution - Missense |
c.218A>G; p.E73G; 17:28325594-28325594 |
skin | malignant_melanoma | Substitution - Missense |
c.493C>G; p.P165A; 17:28326755-28326755 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.21G>T; p.R7S; 17:28319260-28319260 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.357G>C; p.L119L; 17:28326619-28326619 |
breast | carcinoma | Substitution - coding silent |