rs75485205(A;G)

GLUT1 deficiency syndrome 1? Feedback sought ...

Is a	genotype
of	rs75485205
Gene	SLC2A1
Chromosome	1
Position	42,927,224
mentioned	by

Magnitude

3

Repute

Bad

Geno	Mag	Summary
(A;G)	3	GLUT1 deficiency syndrome 1? Feedback sought ...
(G;G)	0	common in clinvar

Annotated in ClinVar as a disease-causing (pathogenic) mutation leading to GLUT1 deficiency syndrome 1, but by only one submitter, and this could be a carrier allele for a recessive form of GLUT1 deficiency rather than a dominant mutation (if it's pathogenic at all). Feel free to email SNPedia (info@snpedia.com) if you have this genotype and have a medical history including or not including symptoms of GLUT1 deficiency such as exercise-induced spasms.