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Variant (rsID / SNP)

rs144182966

CACNB2

rs144182966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,828,446. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:18828446
Cytoband
10p12.31
HGVS
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
Allele change
Missense_D592E

Associated conditions / phenotypes

Brugada syndrome|Cardiovascular phenotype|Brugada syndrome 4

Public references

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