rs121964976(C;G)

Carrier of a glycine encephalopathy mutation

Magnitude
3.0Important
Repute
Bad
On SNPedia
rs121964976(C;G)Minus strand
Gene
GLDC

Other genotypes of rs121964976

  1. G;GMost notableBadGlycine encephalopathy; Non-ketotic hyperglycinemiaVery important · 8.8
  2. C;CGoodcommon in clinvarTypical · 0.0

All about rs121964976

Notes

From SNPedia

Unaffected in absence of a second mutation in the GLDC gene Carriers of a single T allele demonstrate no clinical manifestations of glycine encephalopathy, although offspring who inherit two mutant alleles would be expected to exhibit a range of developmental delays without appropriate medical treatment. "Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), which is an inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme and, as a consequence, accumulation of large quantities of glycine in all body tissues including the brain." en.wikipedia.org It is also of interest that lowered expression of GLDC has been related to lower rates of various cancers.,,

Source and license

Adapted from rs121964976(C;G) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.