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Variant (rsID / SNP)

rs117788141

CARS2

rs117788141 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARS2. Location: chromosome 13, position 111,357,899. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:111357899
Cytoband
13q34
HGVS
NM_024537.4(CARS2):c.244G>A (p.Val82Ile)
Allele change
Silent

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 27

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.