Variant (rsID / SNP)

rs61733968

rs61733968 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,828,486. 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: 10:18828486
Cytoband: 10p12.31
HGVS: NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)
Allele change: Missense_R606G

Associated conditions / phenotypes

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.