Variant (rsID / SNP)
rs542652468
rs542652468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A3. Location: chromosome 19, position 42,490,329. Clinical significance in the table: Pathogenic.
Reference-table entries
ATP1A3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:42490329
- Cytoband
- 19q13.2
- HGVS
- NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)
- Allele change
- Missense_S137F
Associated conditions / phenotypes
Alternating hemiplegia of childhood 2|Epicanthal fold|Abnormal earlobe morphology|Ventriculomegaly|Depressed nasal bridge|Seizure|Dystonia 12
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.