Variant (rsID / SNP)

rs183899632

rs183899632 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,658,258. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CPA6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:68658258
Cytoband: 8q13.2
HGVS: NM_020361.5(CPA6):c.107G>T (p.Arg36Leu)
Allele change: Missense_R36L

Associated conditions / phenotypes

Febrile seizures, familial, 11|Familial temporal lobe epilepsy 5|Seizure

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.