| Entrez Gene ID | 147372 |
|---|---|
| Official Gene Symbol | CCBE1 (GeneCards) |
| Full name | collagen and calcium binding EGF domains 1 |
| Location | 18q21.32 |
| Other ids | Vega : OTTHUMG00000180087 MIM : 612753 HGNC : HGNC:29426 Ensembl : ENSG00000183287 |
| Other names | HKLLS1 |
| Summary | This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] |
Found 9 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 20201 | 147372 | CCBE1 | 18 | 57268713 | 57268713 | Asymptomatic | HiSeq X Ten |
| 20252 | 147372 | CCBE1 | 18 | 57507594 | 57507594 | Asymptomatic | HiSeq X Ten |
| 20323 | 147372 | CCBE1 | 18 | 57397216 | 57397216 | Asymptomatic | HiSeq X Ten |
| 20355 | 147372 | CCBE1 | 18 | 57527171 | 57527171 | Asymptomatic | HiSeq X Ten |
| 20498 | 147372 | CCBE1 | 18 | 57368603 | 57368603 | Asymptomatic | HiSeq X Ten |
| 20510 | 147372 | CCBE1 | 18 | 57497349 | 57497349 | Asymptomatic | HiSeq X Ten |
| 20547 | 147372 | CCBE1 | 18 | 57337103 | 57337103 | Asymptomatic | HiSeq X Ten |
| 20711 | 147372 | CCBE1 | 18 | 57562274 | 57562274 | Cockayne syndrome | HiSeq X Ten |
| 28396 | 147372 | CCBE1 | 18 | 57504024 | 57504024 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |