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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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