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Variant (rsID / SNP)

rs78042826

NDUFS1

rs78042826 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS1. Location: chromosome 2, position 207,003,310. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:207003310
Cytoband
2q33.3
HGVS
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
Allele change
Missense_L431V

Associated conditions / phenotypes

Mitochondrial complex I deficiency|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|Mitochondrial complex 1 deficiency, nuclear type 5

Public references

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