Gene entry
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
- Chromosome
- 19
- Cytoband
- 19q13.2
- Variants (rsID)
- 7
ATP1A3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.2). Its official name is “ATPase Na+/K+ transporting subunit alpha 3”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs267606670Pathogenicsingle nucleotide variantDystonia 12|Alternating hemiplegia of childhood 2|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Alternating hemiplegia of childhood 2|Dystonia 12
- rs387907281Pathogenicsingle nucleotide variantAlternating hemiplegia of childhood 2|Dystonia 12|Global developmental delay|Oculogyric crisis|Hemiplegia|Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Alternating hemiplegia of childhood 2|Inborn genetic diseases|Developmental and epileptic encephalopathy 99|Dystonic disorder|Seizure|Neurodevelopmental delay|Dyskinesia
- rs542652468Pathogenicsingle nucleotide variantAlternating hemiplegia of childhood 2|Epicanthal fold|Abnormal earlobe morphology|Ventriculomegaly|Depressed nasal bridge|Seizure|Dystonia 12
- rs80356533Pathogenicsingle nucleotide variantDystonia 12
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.