Variant (rsID / SNP)

rs146924860

rs146924860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS2. Location: chromosome 6, position 44,272,474. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AARS2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:44272474
Cytoband: 6p21.1
HGVS: NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys)
Allele change: Missense_R554C

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 8

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.