Variant (rsID / SNP)

rs201682618

rs201682618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D1. Location: chromosome 7, position 81,662,190. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CACNA2D1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:81662190
Cytoband: 7q21.11
HGVS: NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu)
Allele change: Missense_K356E

Associated conditions / phenotypes

Brugada syndrome

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.