Variant (rsID / SNP)

rs730880059

rs730880059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,828,312. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CACNB2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:18828312
Cytoband: 10p12.31
HGVS: NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser)
Allele change: Missense_G548S

Associated conditions / phenotypes

Cardiac arrest|Brugada syndrome 4

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.