Variant (rsID / SNP)
rs138044544
rs138044544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRMU. Location: chromosome 22, position 46,739,182. Clinical significance in the table: Benign.
Reference-table entries
TRMUBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:46739182
- Cytoband
- 22q13.31
- HGVS
- NM_018006.5(TRMU):c.272A>G (p.Lys91Arg)
- Allele change
- Silent
Associated conditions / phenotypes
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.