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Variant (rsID / SNP)

rs121918619

ATP1A2

rs121918619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,093,018. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP1A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:160093018
Cytoband
1q23.2
HGVS
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)
Allele change
Missense_R65W

Associated conditions / phenotypes

Migraine, familial hemiplegic, 2|Alternating hemiplegia of childhood 1|Familial hemiplegic migraine

Public references

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