Variant (rsID / SNP)

rs3395

rs3395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,334,411. Clinical significance in the table: Likely benign.

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Reference-table entries

CPA6Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:68334411
Cytoband: 8q13.2
HGVS: NM_020361.5(CPA6):c.*328A>G
Allele change: Silent

Associated conditions / phenotypes

Familial temporal lobe epilepsy 5

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.