rs267607059

A SNP in the SLC2A1 gene on chromosome 1. Its most notable genotype is A;A: Glut1 Deficiency (predicted)

Gene
SLC2A1
Location
Chr 142,927,118 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of a Glut1 deficiency mutationImportant · 3.0
  3. A;AMost notableBadGlut1 Deficiency (predicted)Very important · 9.0

SNPedia records rs267607059 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other SLC2A1 SNPs

All SLC2A1 SNPs

Notes

From SNPedia

Show notes, about 170 words

rs267607059, also known as c.1402C>T, p.Arg468Trp and R468W, represents a rare variant in the SLC2A1 gene on chromosome 1. Although SLC2A1 mutations are more commonly associated with dominantly inherited GLUT1 deficiency, rs267607059 has been found to be recessively inherited. This is based on several studies, including one based on an index patient and her asymptomatic younger sister (who was apparently too young to show symptoms). The mutation was absent in 120 control alleles of healthy individuals as well as in 400 alleles of other GLUT1DS patients. Arg468 represents a highly conserved, functionally important amino acid residue in the GLUT1 carboxy-terminus essential for substrate recognition and transport. Both unaffected parents were heterozygous for the mutation. Patients heterozygous for other SLC2A1 mutations experience milder symptoms.,

A;G

Unaffected in absence of a second SLC2A1 gene mutation; see discussion on main rs-page.

A;A

Severe phenotype; see discussion on main rs-page.

Source and license

Adapted from rs267607059 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.