Variant (rsID / SNP)

rs71579253

rs71579253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFA9. Location: chromosome 12, position 4,764,023. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NDUFA9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:4764023
Cytoband: 12p13.32
HGVS: NM_005002.5(NDUFA9):c.253C>T (p.Arg85Trp)
Allele change: Missense_R85W

Associated conditions / phenotypes

Leigh syndrome

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.