rs137891647

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

Gene
LIPT1
Location
Chr 299,162,832 (GRCh38)
Highest magnitude
9.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;GBadUnaffected carrier of a Lipoyltransferase 1 deficiency mutation (severe)Important · 3.0
  3. G;GMost notableBadLipoyltransferase 1 deficiency (severe)Very important · 9.0

On SNPedia: (C;C), (C;G), (G;G). 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

rs137891647, also known as c.875C>G, p.Ser292Ter and S292X, 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. This mutation is reported based on , and although not annotated as such at the time of this edit, it corresponds to OMIM 610284.0001.

C;G

see rs137891647

G;G

see rs137891647

Source and license

Adapted from rs137891647 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.