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CDK5RAP3

Synonyms
C53, HSF-27, IC53, LZAP, MST016, OK/SW-cl.114, PP1553
External resources
Summary
This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms.

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
3,836
Likely benign
1,523
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CDK5RAP3 gene.

Phenotype class
Patients in 3billion (%)

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