Variant (rsID / SNP)

rs144586525

rs144586525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRMU. Location: chromosome 22, position 46,742,350. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TRMUBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:46742350
Cytoband: 22q13.31
HGVS: NM_018006.5(TRMU):c.387A>G (p.Ala129=)
Allele change: Missense_Q9R

Associated conditions / phenotypes

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.