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Variant (rsID / SNP)

rs201754378

NDUFAF4

rs201754378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF4. Location: chromosome 6, position 97,339,017. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFAF4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:97339017
Cytoband
6q16.1
HGVS
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr)
Allele change
Missense_F164Y

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1

Public references

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