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Variant (rsID / SNP)

rs373940385

NDUFV1

rs373940385 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFV1. Location: chromosome 11, position 67,374,431. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFV1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:67374431
Cytoband
11q13.2
HGVS
NM_007103.4(NDUFV1):c.-45T>G
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome

Public references

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