Variant (rsID / SNP)

rs121918616

rs121918616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,100,073. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATP1A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:160100073
Cytoband: 1q23.2
HGVS: NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)
Allele change: Missense_R548H

Associated conditions / phenotypes

Migraine, familial basilar|Familial hemiplegic migraine

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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