Variant (rsID / SNP)

rs13410490

rs13410490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB4. Location: chromosome 2, position 152,694,448. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CACNB4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:152694448
Cytoband: 2q23.3
HGVS: NM_000726.5(CACNB4):c.*1185T>C
Allele change: Silent

Associated conditions / phenotypes

Juvenile myoclonic epilepsy|Episodic ataxia type 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.