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CREB3L2

Synonyms
BBF2H7
External resources
Summary
This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,604
Likely benign
1,009
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CREB3L2 gene.

Phenotype class
Patients in 3billion (%)

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