Variant (rsID / SNP)
rs35993949
rs35993949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,419,039. 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
- 8:68419039
- Cytoband
- 8q13.2
- HGVS
- NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
- Allele change
- Missense_Q207E
Associated conditions / phenotypes
Familial temporal lobe epilepsy 5|Global developmental delay|Childhood epilepsy with centrotemporal spikes|Febrile seizures, familial, 11|7 conditions|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.