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Variant (rsID / SNP)

rs202060864

FARS2

rs202060864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FARS2. Location: chromosome 6, position 5,404,829. 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
6:5404829
Cytoband
6p25.1
HGVS
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)
Allele change
Missense_R223C

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.