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Variant (rsID / SNP)

rs1804688

NDUFS8

rs1804688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS8. Location: chromosome 11, position 67,804,024. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFS8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:67804024
Cytoband
11q13.2
HGVS
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)
Allele change
Synonymous_I199I

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.