| Entrez Gene ID | 8092 |
|---|---|
| Official Gene Symbol | ALX1 (GeneCards) |
| Full name | ALX homeobox 1 |
| Location | 12q21.31 |
| Other ids | Vega : OTTHUMG00000169820 MIM : 601527 HGNC : HGNC:1494 Ensembl : ENSG00000180318 |
| Other names | FND3, CART1, HEL23 |
| Summary | The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16204 | 8092 | ALX1 | 12 | 85938151 | 85938151 | Asymptomatic | HiSeq X Ten |
| 16464 | 8092 | ALX1 | 12 | 86160854 | 86160854 | Asymptomatic | HiSeq X Ten |
| 16558 | 8092 | ALX1 | 12 | 85899073 | 85899073 | Asymptomatic | HiSeq X Ten |
| 16587 | 8092 | ALX1 | 12 | 86167255 | 86167255 | Asymptomatic | HiSeq X Ten |
| 16776 | 8092 | ALX1 | 12 | 86139252 | 86139252 | Asymptomatic | HiSeq X Ten |
| 16901 | 8092 | ALX1 | 12 | 85724116 | 85724116 | Cockayne syndrome | HiSeq X Ten |
| 17079 | 8092 | ALX1 | 12 | 86100366 | 86100366 | Xeroderma Pigmentosum | HiSeq X Ten |
| 27557 | 8092 | ALX1 | 12 | 85904106 | 85904106 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |