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RPUSD3

Synonyms
-
External resources
Summary
This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. 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
5,027
Likely benign
1,313
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on RPUSD3 gene.

Phenotype class
Patients in 3billion (%)

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