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Variant (rsID / SNP)

rs267606670

ATP1A3

rs267606670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A3. Location: chromosome 19, position 42,472,989. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATP1A3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:42472989
Cytoband
19q13.2
HGVS
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
Allele change
Missense_D923N

Associated conditions / phenotypes

Dystonia 12|Alternating hemiplegia of childhood 2|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Alternating hemiplegia of childhood 2|Dystonia 12

Public references

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