rs137973334

A SNP in the LIPT1 gene on chromosome 2. Its most notable genotype is T;T: Lipoyltransferase 1 deficiency

Gene
LIPT1
Location
Chr 299,162,249 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TBadUnaffected carrier of a Lipoyltransferase mutation (severe)Important · 3.0
  3. T;TMost notableBadLipoyltransferase 1 deficiencyVery important · 9.0

On SNPedia: (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

Other LIPT1 SNPs

All LIPT1 SNPs

Notes

From SNPedia

Notes

rs137973334, also known as c.292C>G, p.Arg98Gly and R98G, represents a rare mutation in the LIPT1 gene on chromosome 2. Recessively inherited, mutations in the LIPT1 gene are considered causative for lipoyltransferase 1 deficiency, a severe metabolic disorder often leading to death soon after birth.

C;T

see discussion at rs137973334

T;T

see discussion at rs137973334

Source and license

Adapted from rs137973334 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.