Variant (rsID / SNP)

rs587777589

rs587777589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS2. Location: chromosome 6, position 44,278,833. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AARS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 6:44278833
Cytoband: 6p21.1
HGVS: NM_020745.4(AARS2):c.647dup (p.Cys218fs)

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 8|Pulmonary hypoplasia

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.