rs386833550
A SNP in the GLDC gene on chromosome 9. Its most notable genotype is T;T: Glycine encephalopathy; Non-ketotic hyperglycinemia
- Gene
- GLDC
- Location
- Chr 96,554,700 (GRCh38)
- Highest magnitude
- 8.8Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadGlycine encephalopathy; Non-ketotic hyperglycinemia
- C;TBadCarrier of a glycine encephalopathy mutation
- C;CGoodcommon in clinvar
SNPedia records rs386833550 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GLDC SNPs
- rs121964974A;AGlycine encephalopathy; Non-ketotic hyperglycinemiaVery important
- rs121964975-;-Glycine encephalopathy; Non-ketotic hyperglycinemiaVery important
- rs121964976G;GGlycine encephalopathy; Non-ketotic hyperglycinemiaVery important
- rs121964977A;AGlycine encephalopathy; Non-ketotic hyperglycinemiaVery important
- rs121964978G;GGlycine encephalopathy; Non-ketotic hyperglycinemiaVery important
- rs121964979A;AGlycine encephalopathy; Non-ketotic hyperglycinemiaVery important
- rs121964980T;TGlycine encephalopathy; Non-ketotic hyperglycinemiaVery important
- rs149070244G;GGlycine encephalopathy; Non-ketotic hyperglycinemiaVery important
Notes
From SNPedia
Notes
c.2284G>A (p.Gly762Arg)
T;T
see associated ClinVar and OMIM entries
C;T
Unaffected in absence of a second mutation in the GLDC gene
Source and license
Adapted from rs386833550 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.