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TRDMT1

Synonyms
DMNT2, DNMT2, MHSAIIP, PUMET, RNMT1
External resources
Summary
This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa.

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
6,402
Likely benign
2,794
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TRDMT1 gene.

Phenotype class
Patients in 3billion (%)

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