Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200092211

CACNB4

rs200092211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB4. Location: chromosome 2, position 152,955,521. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CACNB4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:152955521
Cytoband
2q23.3
HGVS
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
Allele change
Missense_S2F

Associated conditions / phenotypes

Episodic ataxia type 5|Juvenile myoclonic epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 9|Episodic ataxia type 5|Epilepsy, idiopathic generalized, susceptibility to, 9|Idiopathic generalized epilepsy

Public references

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