Variant (rsID / SNP)
rs387907281
rs387907281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A3. Location: chromosome 19, position 42,474,436. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:42474436
- Cytoband
- 19q13.2
- HGVS
- NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
- Allele change
- Missense_E815K
Associated conditions / phenotypes
Alternating hemiplegia of childhood 2|Dystonia 12|Global developmental delay|Oculogyric crisis|Hemiplegia|Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Alternating hemiplegia of childhood 2|Inborn genetic diseases|Developmental and epileptic encephalopathy 99|Dystonic disorder|Seizure|Neurodevelopmental delay|Dyskinesia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.