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Variant (rsID / SNP)

rs142073519

FARS2

rs142073519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FARS2. Location: chromosome 6, position 5,545,479. 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
6:5545479
Cytoband
6p25.1
HGVS
NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys)
Allele change
Missense_Y324C

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.