Variant (rsID / SNP)

rs199985183

rs199985183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS2. Location: chromosome 6, position 44,278,058. 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: 6:44278058
Cytoband: 6p21.1
HGVS: NM_020745.4(AARS2):c.872C>T (p.Pro291Leu)
Allele change: Missense_P291L

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.