Variant (rsID / SNP)

rs138423466

rs138423466 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,807,333. 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: 10:18807333
Cytoband: 10p12.31
HGVS: NM_201596.3(CACNB2):c.873G>A (p.Leu291=)
Allele change: Synonymous_L291L

Associated conditions / phenotypes

Brugada syndrome 4|Cardiovascular phenotype

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.