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Variant (rsID / SNP)

rs886039530

ATP1A2

rs886039530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,100,337. 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
1:160100337
Cytoband
1q23.2
HGVS
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp)
Allele change
Missense_R593W

Associated conditions / phenotypes

Epileptic encephalopathy|Familial hemiplegic migraine

Public references

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