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Variant (rsID / SNP)

rs372385045

NDUFAF1

rs372385045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF1. Location: chromosome 15, position 41,688,705. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFAF1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:41688705
Cytoband
15q15.1
HGVS
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val)
Allele change
Silent

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.