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Variant (rsID / SNP)

rs137886839

CACNB2

rs137886839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,828,340. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CACNB2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:18828340
Cytoband
10p12.31
HGVS
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)
Allele change
Missense_S557L

Associated conditions / phenotypes

Cardiovascular phenotype|Brugada syndrome 4|Cardiomyopathy

Public references

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