| Gene ID | 64946 |
| Symbol | CENPH |
| Synonymous | - |
| Full name | centromere protein H |
| Gene description | CENP-H|interphase centromere complex protein 35|kinetochore protein CENP-H |
| Cytoband | 5p15.2 |
| Gene type | protein-coding |
| Synonymous | MIM:605607; HGNC:HGNC:17268; Ensembl:ENSG00000153044; HPRD:12029; Vega:OTTHUMG00000097816 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.695C>A; p.A232D; 5:69209750-69209750 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.368C>T; p.S123F; 5:69197106-69197106 |
skin | malignant_melanoma | Substitution - Missense |
c.337delA; p.N115fs*16; 5:69197075-69197075 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.337delA; p.N115fs*16; 5:69197075-69197075 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.337delA; p.N115fs*16; 5:69197075-69197075 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.337delA; p.N115fs*16; 5:69197075-69197075 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.337delA; p.N115fs*16; 5:69197075-69197075 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.337delA; p.N115fs*16; 5:69197075-69197075 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.337delA; p.N115fs*16; 5:69197075-69197075 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.313A>T; p.R105W; 5:69195790-69195790 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.314G>T; p.R105M; 5:69195791-69195791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>T; p.V244F; 5:69209785-69209785 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4G>A; p.E2K; 5:69189638-69189638 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.588G>T; p.K196N; 5:69208296-69208296 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.472A>G; p.R158G; 5:69202955-69202955 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.239C>T; p.A80V; 5:69194695-69194695 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.477G>T; p.K159N; 5:69202960-69202960 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.570A>C; p.E190D; 5:69208278-69208278 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.696C>T; p.A232A; 5:69209751-69209751 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.235G>A; p.E79K; 5:69194691-69194691 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.414A>C; p.K138N; 5:69202548-69202548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.604C>T; p.L202L; 5:69208312-69208312 |
pancreas | carcinoid-endocrine_tumour | Substitution - coding silent |
c.234C>T; p.I78I; 5:69194690-69194690 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.336_337insA; p.N115fs*6; 5:69197074-69197075 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.262G>C; p.E88Q; 5:69195739-69195739 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.388delA; p.M130fs*1; 5:69202522-69202522 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.180G>A; p.M60I; 5:69191840-69191840 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.587A>G; p.K196R; 5:69208295-69208295 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.189A>T; p.A63A; 5:69191849-69191849 |
skin | malignant_melanoma | Substitution - coding silent |
c.686A>G; p.E229G; 5:69209741-69209741 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.738G>T; p.M246I; 5:69209793-69209793 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.591C>T; p.I197I; 5:69208299-69208299 |
skin | malignant_melanoma | Substitution - coding silent |
c.62G>T; p.R21L; 5:69189696-69189696 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.487+1G>A; p.?; 5:69202971-69202971 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.251A>T; p.D84V; 5:69195728-69195728 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |