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POLDIP3

Synonyms
PDIP3, PDIP46, SKAR
External resources
Summary
This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants.

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
2,642
Likely benign
2,503
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on POLDIP3 gene.

Phenotype class
Patients in 3billion (%)

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