RS80359812 SLC2A1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Childhood onset GLUT1 deficiency syndrome 2
GLUT1 deficiency syndrome 1
autosomal recessive
Encephalopathy due to GLUT1 deficiency
Dystonia 9
Hereditary cryohydrocytosis with reduced stomatin
Childhood onset GLUT1 deficiency syndrome 2
Epilepsy
idiopathic generalized
susceptibility to
12
Seizure
Childhood onset GLUT1 deficiency syndrome 2
GLUT1 deficiency syndrome 1
autosomal recessive
Other Variants in SLC2A1