CENATAC Chromosome 11
Centrosomal AT-AC splicing factor
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What This Gene Does
This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Associated Conditions (1)
Mosaic variegated aneuploidy syndrome 4
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1310426368 | Health Risk | Pathogenic | Mosaic variegated aneuploidy syndrome 4, Mosaic variegated aneuploidy syndrome 4 |
| RS370905829 | Health Risk | Pathogenic | Mosaic variegated aneuploidy syndrome 4, Mosaic variegated aneuploidy syndrome 4 |