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Variant (rsID / SNP)

rs17846714

ATP1A2

rs17846714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,100,264. Clinical significance in the table: Benign.

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Reference-table entries

ATP1A2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
1:160100264
Cytoband
1q23.2
HGVS
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=)
Allele change
Synonymous_F568F

Associated conditions / phenotypes

Alternating 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

Public references

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