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Variant (rsID / SNP)

rs200445799

NDUFS6

rs200445799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS6. Location: chromosome 5, position 1,816,045. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFS6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:1816045
Cytoband
5p15.33
HGVS
NM_004553.6(NDUFS6):c.*15C>T
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.