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Variant (rsID / SNP)

rs863223860

AARS2

rs863223860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS2. Location: chromosome 6, position 44,279,976. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:44279976
Cytoband
6p21.1
HGVS
NM_020745.4(AARS2):c.268G>C (p.Val90Leu)
Allele change
Missense_V90L

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 8

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.