Variant (rsID / SNP)

rs112247130

rs112247130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS2. Location: chromosome 6, position 44,269,171. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AARS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:44269171
Cytoband: 6p21.1
HGVS: NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp)
Allele change: Missense_R877W

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.