Variant (rsID / SNP)

rs374957295

rs374957295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FARS2. Location: chromosome 6, position 5,369,126. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FARS2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:5369126
Cytoband: 6p25.1
HGVS: NM_006567.5(FARS2):c.323C>T (p.Pro108Leu)
Allele change: Missense_P108L

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 14

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.