Variant (rsID / SNP)

rs114402678

rs114402678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,396,032. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CPA6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:68396032
Cytoband: 8q13.2
HGVS: NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
Allele change: Silent

Associated conditions / phenotypes

Febrile seizures, familial, 11|Familial temporal lobe epilepsy 5|Intellectual disability

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.