Variant (rsID / SNP)

rs151119622

rs151119622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,423,882. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CPA6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:68423882
Cytoband: 8q13.2
HGVS: NM_020361.5(CPA6):c.326T>C (p.Ile109Thr)
Allele change: Missense_I109T

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.