| Gene ID | 79648 |
| Symbol | MCPH1 |
| Synonymous | BRIT1|MCT |
| Full name | microcephalin 1 |
| Gene description | BRCT-repeat inhibitor of TERT expression 1|microcephalin |
| Cytoband | 8p23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:607117; HGNC:HGNC:6954; HPRD:06174 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2347G>A; p.G783R; 8:6621586-6621586 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.991C>T; p.R331C; 8:6444713-6444713 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1781C>T; p.T594M; 8:6445503-6445503 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073G>T; p.R358I; 8:6444795-6444795 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396delA; p.T468fs*32; 8:6445118-6445118 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.505A>C; p.N169H; 8:6439021-6439021 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |