Variant (rsID / SNP)

rs121918620

rs121918620 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,098,551. 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: 1:160098551
Cytoband: 1q23.2
HGVS: NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met)
Allele change: Missense_T376M

Associated conditions / phenotypes

Migraine, familial hemiplegic, 2|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.