rs786205156

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

Gene
LIPT1
Location
Chr 299,162,492 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;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: (A;A), (A;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

rs786205156, also known as c.535A>G, p.Thr179Ala and T179A, 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.

A;G

see rs786205156

G;G

see rs786205156

Source and license

Adapted from rs786205156 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.