ZIC1 Chromosome 3
Zic family zinc finger 1
Upload your DNA to see your personal genotypes for variants in ZIC1.
What This Gene Does
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZIC family zinc fingers"
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000152977
Associated Conditions (3)
Inborn genetic diseases
Craniosynostosis 6
Structural brain anomalies with impaired intellectual development and craniosynostosis
Key Variants
RS1064794698
Conflicting classifications of pathogenicity
Health Risk
RS758813821
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1576469513
Likely pathogenic
Health Risk
RS2087391194
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2087399510
Likely pathogenic
Craniosynostosis 6, Craniosynostosis 6
Health Risk
RS2107994263
Likely pathogenic
Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
Health Risk
RS2473127082
Likely pathogenic
Health Risk
RS777958545
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057517667
Pathogenic
Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
Health Risk
RS1057517668
Pathogenic
Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
Health Risk
RS1057517669
Pathogenic
Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
Health Risk
RS1057517670
Pathogenic
Craniosynostosis 6, Craniosynostosis 6
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064794698 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758813821 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1576469513 | Health Risk | Likely pathogenic | — |
| RS2087391194 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2087399510 | Health Risk | Likely pathogenic | Craniosynostosis 6, Craniosynostosis 6 |
| RS2107994263 | Health Risk | Likely pathogenic | Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis |
| RS2473127082 | Health Risk | Likely pathogenic | — |
| RS777958545 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1057517667 | Health Risk | Pathogenic | Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis |
| RS1057517668 | Health Risk | Pathogenic | Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis |
| RS1057517669 | Health Risk | Pathogenic | Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis |
| RS1057517670 | Health Risk | Pathogenic | Craniosynostosis 6, Craniosynostosis 6 |
| RS1576470734 | Health Risk | Pathogenic | — |
| RS1576470749 | Health Risk | Pathogenic | Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis |