Variant (rsID / SNP)

rs118203992

rs118203992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRMU. Location: chromosome 22, position 46,731,663. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TRMUPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:46731663
Cytoband: 22q13.31
HGVS: NM_018006.5(TRMU):c.2T>A (p.Met1Lys)
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.