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Variant (rsID / SNP)

rs149253719

CACNB2

rs149253719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,795,447. 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
10:18795447
Cytoband
10p12.31
HGVS
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
Allele change
Missense_S214T

Associated conditions / phenotypes

Early repolarization associated with ventricular fibrillation|Cardiovascular phenotype|Brugada syndrome|Brugada syndrome 4

Public references

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