| Entrez Gene ID | 7547 |
|---|---|
| Official Gene Symbol | ZIC3 (GeneCards) |
| Full name | Zic family member 3 |
| Location | Xq26.3 |
| Other ids | Vega : OTTHUMG00000022525 MIM : 300265 HGNC : HGNC:12874 Ensembl : ENSG00000156925 |
| Other names | HTX, HTX1, ZNF203, VACTERLX |
| Summary | This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008] |
Found 11 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22015 | 7547 | ZIC3 | X | 137408483 | 137408483 | Asymptomatic | HiSeq X Ten |
| 22221 | 7547 | ZIC3 | X | 137558568 | 137558568 | Asymptomatic | HiSeq X Ten |
| 22260 | 7547 | ZIC3 | X | 136805227 | 136805227 | Asymptomatic | HiSeq X Ten |
| 22282 | 7547 | ZIC3 | X | 137255172 | 137255172 | Cockayne syndrome | HiSeq X Ten |
| 22355 | 7547 | ZIC3 | X | 136880419 | 136880419 | Xeroderma Pigmentosum | HiSeq X Ten |
| 22371 | 7547 | ZIC3 | X | 136784804 | 136784804 | Xeroderma Pigmentosum | HiSeq X Ten |
| 22400 | 7547 | ZIC3 | X | 137156552 | 137156552 | Xeroderma Pigmentosum | HiSeq X Ten |
| 28797 | 7547 | ZIC3 | X | 137214250 | 137214250 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29043 | 7547 | ZIC3 | X | 136788675 | 136788675 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29079 | 7547 | ZIC3 | X | 137039351 | 137039351 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29080 | 7547 | ZIC3 | X | 137039516 | 137039516 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |