rs119466000

A SNP in the LRPPRC gene on chromosome 2. Its most notable genotype is A;A: Leigh syndrome, French Canadian type

Gene
LRPPRC
Location
Chr 243,974,244 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadcarrier for Leigh syndrome, French Canadian type alleleImportant · 3.0
  3. A;AMost notableBadLeigh syndrome, French Canadian typeVery important · 5.0

SNPedia records rs119466000 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs119466000, also known as c.1061C>T, p.Ala354Val and A354V, represents a rare variant in the LRPPRC gene on chromosome 2. The rs119466000(T) allele, when inherited recessively, in considered pathogenic for a form of Leigh syndrome known as the French-Canadian type, due to this being a founder mutation in that population. 23andMe name: i5012749

Source and license

Adapted from rs119466000 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.