Variant (rsID / SNP)

rs146773721

rs146773721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARS2. Location: chromosome 13, position 111,335,406. Clinical significance in the table: Benign.

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Reference-table entries

CARS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:111335406
Cytoband: 13q34
HGVS: NM_024537.4(CARS2):c.647G>A (p.Gly216Glu)
Allele change: Silent

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 27

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.