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Variant (rsID / SNP)

rs113846383

TRMU

rs113846383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRMU. Location: chromosome 22, position 46,751,367. 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
22:46751367
Cytoband
22q13.31
HGVS
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
Allele change
Synonymous_L160L

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.