Variant (rsID / SNP)

rs367683258

rs367683258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRMU. Location: chromosome 22, position 46,748,173. Clinical significance in the table: Pathogenic.

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Reference-table entries

TRMUPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:46748173
Cytoband: 22q13.31
HGVS: NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)
Allele change: Nonsense_R100X

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.