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POLR2H

Synonyms
RPABC3, RPB17, RPB8
External resources
Summary
The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of 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
4,023
Likely benign
169
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on POLR2H gene.

Phenotype class
Patients in 3billion (%)

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