Variant (rsID / SNP)
rs80356533
rs80356533 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A3. Location: chromosome 19, position 42,489,234. Clinical significance in the table: Pathogenic.
Reference-table entries
ATP1A3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:42489234
- Cytoband
- 19q13.2
- HGVS
- NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)
- Allele change
- Missense_E277K
Associated conditions / phenotypes
Dystonia 12
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.