Variant (rsID / SNP)

rs754239335

rs754239335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRMU. Location: chromosome 22, position 46,752,855. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRMUConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:46752855
Cytoband: 22q13.31
HGVS: NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
Allele change: Silent

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.