| Entrez Gene ID | 10752 |
|---|---|
| Official Gene Symbol | CHL1 (GeneCards) |
| Full name | cell adhesion molecule L1 like |
| Location | 3p26.3 |
| Other ids | Vega : OTTHUMG00000090601 MIM : 607416 HGNC : HGNC:1939 Ensembl : ENSG00000134121 |
| Other names | CALL, L1CAM2 |
| Summary | The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 4584 | 10752 | CHL1 | 3 | 552552 | 552552 | Asymptomatic | HiSeq X Ten |
| 4994 | 10752 | CHL1 | 3 | 250995 | 250995 | Asymptomatic | HiSeq X Ten |
| 22778 | 10752 | CHL1 | 3 | 436715 | 436715 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29738 | 10752 | CHL1 | 3 | 386367 | 386367 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |