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Variant (rsID / SNP)

rs542973906

CACNB4

rs542973906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB4. Location: chromosome 2, position 152,955,518. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNB4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:152955518
Cytoband
2q23.3
HGVS
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
Allele change
Missense_S3F

Associated conditions / phenotypes

Juvenile myoclonic epilepsy|Episodic ataxia type 5|Idiopathic generalized epilepsy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.