Variant (rsID / SNP)

rs80248494

rs80248494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB4. Location: chromosome 2, position 152,690,862. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CACNB4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:152690862
Cytoband: 2q23.3
HGVS: NM_000726.5(CACNB4):c.*4771G>A
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.