Variant (rsID / SNP)

rs147091256

rs147091256 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS2. Location: chromosome 6, position 44,274,725. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AARS2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:44274725
Cytoband: 6p21.1
HGVS: NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)
Allele change: Missense_M362L

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.