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Variant (rsID / SNP)

rs150955045

NDUFAF5

rs150955045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF5. Location: chromosome 20, position 13,782,197. 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
20:13782197
Cytoband
20p12.1
HGVS
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=)
Allele change
Silent

Associated conditions / phenotypes

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.