Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs756364065

CACNA1C

rs756364065 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,783,741. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CACNA1CConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:2783741
Cytoband
12p13.33
HGVS
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=)
Allele change
Synonymous_A1607A

Associated conditions / phenotypes

Cardiovascular phenotype|Timothy syndrome|Brugada syndrome|Long QT syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.