Variant (rsID / SNP)
rs146839867
rs146839867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP1A2. Location: chromosome 1, position 160,106,732. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ATP1A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:160106732
- Cytoband
- 1q23.2
- HGVS
- NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
- Allele change
- Synonymous_T917T
Associated conditions / phenotypes
Familial hemiplegic migraine|Alternating hemiplegia of childhood 1|Migraine, familial hemiplegic, 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
