Variant (rsID / SNP)

rs201870832

rs201870832 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB4. Location: chromosome 2, position 152,727,089. Clinical significance in the table: Benign.

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Reference-table entries

CACNB4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:152727089
Cytoband: 2q23.3
HGVS: NM_000726.5(CACNB4):c.655A>G (p.Met219Val)
Allele change: Missense_M1V

Associated conditions / phenotypes

Idiopathic generalized epilepsy

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.