Variant (rsID / SNP)

rs151327713

rs151327713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D1. Location: chromosome 7, position 81,599,241. Clinical significance in the table: Benign.

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Reference-table entries

CACNA2D1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:81599241
Cytoband: 7q21.11
HGVS: NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr)
Allele change: Missense_S755T

Associated conditions / phenotypes

Cardiac arrest|Cardiovascular phenotype|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.