Variant (rsID / SNP)
rs10957393
rs10957393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,536,470. Clinical significance in the table: Benign.
Reference-table entries
CPA6Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:68536470
- Cytoband
- 8q13.2
- HGVS
- NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)
- Allele change
- Missense_F45L
Associated conditions / phenotypes
Familial temporal lobe epilepsy 5|Febrile seizures, familial, 11
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.