RS1064797245 ATP1A3
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What This Variant Does
"CLNSIG=4
Associated Conditions
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Alternating hemiplegia of childhood 2
Inborn genetic diseases
ATP1A3-related disorder
ATP1A3-associated neurological disorder
Seizure
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Alternating hemiplegia of childhood 2
Inborn genetic diseases
ATP1A3-related disorder
ATP1A3-associated neurological disorder
Seizure
Other Variants in ATP1A3