Variant (rsID / SNP)

rs387907022

rs387907022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRMU. Location: chromosome 22, position 46,749,726. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TRMUPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:46749726
Cytoband: 22q13.31
HGVS: NM_018006.5(TRMU):c.835G>A (p.Val279Met)
Allele change: Missense_V139M

Associated conditions / phenotypes

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins|Inborn genetic diseases

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.