rs587776949

A SNP in the NDUFS4 gene on chromosome 5. Its most notable genotype is -;A: Carrier of a mitochondrial complex I deficiency nuclear type 1 mutation

Gene
NDUFS4
Location
Chr 553,683,155 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;AMost notableBadCarrier of a mitochondrial complex I deficiency nuclear type 1 mutationImportant · 3.0
  2. A;AGoodcommon in clinvarTypical · 0.0

On SNPedia: (-;A), (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.462delA (p.Lys154Asnfs) Recessively inherited, c.462delA leads to complex I deficiency nuclear type 1, which may look like Leigh syndrome. This mutation is considered to be a founder mutation in Ashkenazi Jews, with a carrier frequency estimated to be 1 in 1,000.

-;A

Unaffected in absence of a second NDUFS4 gene mutation

Source and license

Adapted from rs587776949 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.