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Variant (rsID / SNP)

rs146356199

FARS2

rs146356199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FARS2. Location: chromosome 6, position 5,369,309. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:5369309
Cytoband
6p25.1
HGVS
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)
Allele change
Missense_D169V

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 14

Public references

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