Variant (rsID / SNP)

rs186968009

rs186968009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1D. Location: chromosome 3, position 53,766,920. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CACNA1DBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:53766920
Cytoband: 3p21.1
HGVS: NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp)
Allele change: Missense_L851W

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.