Variant (rsID / SNP)

rs115815965

rs115815965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS2. Location: chromosome 6, position 44,278,069. Clinical significance in the table: Benign.

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Reference-table entries

AARS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:44278069
Cytoband: 6p21.1
HGVS: NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)
Allele change: Missense_D287E

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.