| Entrez Gene ID | 23347 |
|---|---|
| Official Gene Symbol | SMCHD1 (GeneCards) |
| Full name | structural maintenance of chromosomes flexible hinge domain containing 1 |
| Location | 18p11.32 |
| Other ids | Vega : OTTHUMG00000178235 MIM : 614982 HGNC : HGNC:29090 Ensembl : ENSG00000101596 |
| Other names | BAMS, FSHD2 |
| Summary | This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 20351 | 23347 | SMCHD1 | 18 | 2742467 | 2742467 | Asymptomatic | HiSeq X Ten |
| 20381 | 23347 | SMCHD1 | 18 | 2693917 | 2693917 | Asymptomatic | HiSeq X Ten |
| 20390 | 23347 | SMCHD1 | 18 | 2842398 | 2842398 | Asymptomatic | HiSeq X Ten |
| 20705 | 23347 | SMCHD1 | 18 | 2809777 | 2809777 | Cockayne syndrome | HiSeq X Ten |
| 20783 | 23347 | SMCHD1 | 18 | 2787162 | 2787162 | Xeroderma Pigmentosum | HiSeq X Ten |