Variant (rsID / SNP)

rs1805029

rs1805029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB4. Location: chromosome 2, position 152,695,783. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CACNB4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:152695783
Cytoband: 2q23.3
HGVS: NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
Allele change: Synonymous_R253R

Associated conditions / phenotypes

Episodic ataxia type 5|Juvenile myoclonic epilepsy|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.