Variant (rsID / SNP)
rs147046973
rs147046973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,346,398. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CPA6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:68346398
- Cytoband
- 8q13.2
- HGVS
- NM_020361.5(CPA6):c.916G>A (p.Val306Ile)
- Allele change
- Silent
Associated conditions / phenotypes
Febrile seizures, familial, 11|Febrile seizures, familial, 11|Familial temporal lobe epilepsy 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.