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Variant (rsID / SNP)

rs142348542

ATP1A2

rs142348542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,099,904. 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
1:160099904
Cytoband
1q23.2
HGVS
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
Allele change
Missense_E492K

Associated conditions / phenotypes

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

Public references

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