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Variant (rsID / SNP)

rs116711766

ATP1A2

rs116711766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,093,165. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ATP1A2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:160093165
Cytoband
1q23.2
HGVS
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
Allele change
Missense_G114S

Associated conditions / phenotypes

Familial 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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.