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Variant (rsID / SNP)

rs144937332

NDUFS2

rs144937332 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS2. Location: chromosome 1, position 161,180,473. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:161180473
Cytoband
1q23.3
HGVS
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)
Allele change
Missense_V320A

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.