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Variant (rsID / SNP)

rs150613320

NDUFAF5

rs150613320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF5. Location: chromosome 20, position 13,769,298. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFAF5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:13769298
Cytoband
20p12.1
HGVS
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 16|Inborn genetic diseases|Mitochondrial complex I deficiency|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.