Variant (rsID / SNP)

rs138119149

rs138119149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS2. Location: chromosome 6, position 44,272,249. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AARS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:44272249
Cytoband: 6p21.1
HGVS: NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
Allele change: Missense_R592W

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 8|Inborn genetic diseases|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.