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RPAP3

Synonyms
Tah1, hSpagh
External resources
Summary
This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described.

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
1,783
Likely benign
1,908
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RPAP3 gene.

Phenotype class
Patients in 3billion (%)

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