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CDK5RAP1

Synonyms
C20orf34, C42, CGI-05, HSPC167
External resources
Summary
This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. 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
10,843
Likely benign
17,507
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CDK5RAP1 gene.

Phenotype class
Patients in 3billion (%)

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