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Variant (rsID / SNP)

rs757043077

NDUFAF5

rs757043077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF5. Location: chromosome 20, position 13,789,519. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NDUFAF5Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:13789519
Cytoband
20p12.1
HGVS
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 16|Mitochondrial complex I deficiency

Public references

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