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Variant (rsID / SNP)

rs200367454

CACNB2

rs200367454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,787,330. 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
10:18787330
Cytoband
10p12.31
HGVS
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
Allele change
Missense_A127V

Associated conditions / phenotypes

Paroxysmal familial ventricular fibrillation|Cardiovascular phenotype|Brugada syndrome 4|Sudden unexplained death

Public references

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