Variant (rsID / SNP)

rs17853192

rs17853192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,421,768. Clinical significance in the table: Benign.

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Reference-table entries

CPA6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:68421768
Cytoband: 8q13.2
HGVS: NM_020361.5(CPA6):c.518C>G (p.Ser173Cys)
Allele change: Missense_S173C

Associated conditions / phenotypes

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

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.