Variant (rsID / SNP)

rs369673473

rs369673473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,558,201. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CACNA1CBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:2558201
Cytoband: 12p13.33
HGVS: NM_000719.7(CACNA1C):c.537C>T (p.Ile179=)
Allele change: Synonymous_I179I

Associated conditions / phenotypes

Long QT syndrome|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.