Gene entry
TMLHE
trimethyllysine hydroxylase, epsilon
- Chromosome
- X
- Cytoband
- Xq28
- Variants (rsID)
- 14
TMLHE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “trimethyllysine hydroxylase, epsilon”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs140048282Likely benignsingle nucleotide variant
- rs781889971Uncertain significancesingle nucleotide variantEpsilon-trimethyllysine hydroxylase deficiency|Intellectual disability
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.