CDCA7 Chromosome 2
Cell division cycle associated 7
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What This Gene Does
This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Associated Conditions (1)
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Key Variants
RS373226323
Conflicting classifications of pathogenicity
Health Risk
RS772929976
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Health Risk
RS2468428826
Likely pathogenic
Health Risk
RS370384522
Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Health Risk
RS879253738
Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS373226323 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772929976 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
| RS2468428826 | Health Risk | Likely pathogenic | — |
| RS370384522 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
| RS879253738 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |