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Variant (rsID / SNP)

rs368907187

NDUFS3

rs368907187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS3. Location: chromosome 11, position 47,600,832. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFS3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:47600832
Cytoband
11p11.2
HGVS
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser)
Allele change
Missense_P27S

Associated conditions / phenotypes

Leigh syndrome|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.