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Variant (rsID / SNP)

rs138941073

NDUFS4

rs138941073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS4. Location: chromosome 5, position 52,899,285. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFS4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:52899285
Cytoband
5q11.2
HGVS
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)
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.