Variant (rsID / SNP)

rs76956014

rs76956014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,816,565. Clinical significance in the table: Benign.

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Reference-table entries

CACNB2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:18816565
Cytoband: 10p12.31
HGVS: NM_201596.3(CACNB2):c.993G>A (p.Ser331=)
Allele change: Synonymous_S331S

Associated conditions / phenotypes

Cardiovascular phenotype|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.