Gene entry
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
- Chromosome
- 2
- Cytoband
- 2q23.3
- Variants (rsID)
- 59
CACNB4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q23.3). Its official name is “calcium voltage-gated channel auxiliary subunit beta 4”. The reference table lists 59 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs13410490Benignsingle nucleotide variantJuvenile myoclonic epilepsy|Episodic ataxia type 5
- rs1805029Benignsingle nucleotide variantEpisodic ataxia type 5|Juvenile myoclonic epilepsy|Idiopathic generalized epilepsy
- rs201870832Benignsingle nucleotide variantIdiopathic generalized epilepsy
- rs556761275Benignsingle nucleotide variantEpisodic ataxia type 5|Juvenile myoclonic epilepsy
- rs75365487Benignsingle nucleotide variantEpisodic ataxia type 5|Juvenile myoclonic epilepsy
- rs80248494Benignsingle nucleotide variantJuvenile myoclonic epilepsy|Episodic ataxia type 5
- rs1805031Conflicting interpretationssingle nucleotide variantEpisodic ataxia type 5|Epilepsy, idiopathic generalized, susceptibility to, 9|Juvenile myoclonic epilepsy|Idiopathic generalized epilepsy
- rs200092211Conflicting interpretationssingle nucleotide variantEpisodic 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
- rs200662010Conflicting interpretationssingle nucleotide variantEpisodic ataxia type 5|Juvenile myoclonic epilepsy|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 9|Episodic ataxia type 5
- rs542973906Conflicting interpretationssingle nucleotide variantJuvenile myoclonic epilepsy|Episodic ataxia type 5|Idiopathic generalized epilepsy
Other listed variants
- rs867544
- rs1356732
- rs1879140
- rs3768652
- rs3768655
- rs3820706
- rs4146377
- rs4664073
- rs4664076
- rs6725537
- rs6741737
- rs6748530
- rs7419564
- rs7604835
- rs9784082
- rs10181200
- rs10803934
- rs11682685
- rs11685477
- rs11695363
- rs11895837
- rs12327907
- rs12693199
- rs12693208
- rs13429172
- rs16830435
- rs16830446
- rs16830606
- rs16830672
- rs17270380
- rs17270387
- rs41341145
- rs75659631
- rs76971684
- rs77371477
- rs77930157
- rs78256326
- rs78643383
- rs79047854
- rs79199481
- rs79872355
- rs80056271
- rs80301704
- rs115412321
- rs115990577
- rs116304885
- rs141553115
- rs141776629
- rs189132776
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.