Gene entry
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
- Chromosome
- 1
- Cytoband
- 1q23.2
- Variants (rsID)
- 20
ATP1A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q23.2). Its official name is “ATPase Na+/K+ transporting subunit alpha 2”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs116711766Benignsingle nucleotide variantFamilial hemiplegic migraine|Alternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2|FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES|Developmental and epileptic encephalopathy 98
- rs148929192Benignsingle nucleotide variantAlternating hemiplegia of childhood 1|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2|FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES|Developmental and epileptic encephalopathy 98
- rs17846714Benignsingle nucleotide variantAlternating hemiplegia of childhood 1|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2|FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES|Developmental and epileptic encephalopathy 98
- rs200102433Benignsingle nucleotide variantFamilial hemiplegic migraine|Alternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2|Developmental and epileptic encephalopathy 98|FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
- rs6695366Benignsingle nucleotide variantAlternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2|FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES|Developmental and epileptic encephalopathy 98
- rs121918619Conflicting interpretationssingle nucleotide variantMigraine, familial hemiplegic, 2|Alternating hemiplegia of childhood 1|Familial hemiplegic migraine
- rs139229302Conflicting interpretationssingle nucleotide variantFamilial hemiplegic migraine|Alternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2
- rs141467566Conflicting interpretationssingle nucleotide variantFamilial hemiplegic migraine|Alternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2
- rs142348542Conflicting interpretationssingle nucleotide variantAlternating hemiplegia of childhood 1|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2
- rs146839867Conflicting interpretationssingle nucleotide variantFamilial hemiplegic migraine|Alternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2
- rs187733403Conflicting interpretationssingle nucleotide variantAlternating hemiplegia of childhood 1|Familial hemiplegic migraine|Migraine, familial hemiplegic, 2
- rs574788908Conflicting interpretationssingle nucleotide variantFamilial hemiplegic migraine
- rs781687346Conflicting interpretationssingle nucleotide variantFamilial hemiplegic migraine|Migraine, familial hemiplegic, 2
- rs886039530Conflicting interpretationssingle nucleotide variantEpileptic encephalopathy|Familial hemiplegic migraine
- rs121918616Pathogenicsingle nucleotide variantMigraine, familial basilar|Familial hemiplegic migraine
- rs121918620Pathogenicsingle nucleotide variantMigraine, familial hemiplegic, 2|Familial hemiplegic migraine
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.