Home > Gene Browser > TRMT2B

TRMT2B

Synonyms
CXorf34, dJ341D10.3
External resources
Summary
This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA double strand break repair. Alternative splicing results in multiple transcripts encoding 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
814
Likely benign
358
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TRMT2B gene.

Phenotype class
Patients in 3billion (%)

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