Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs41276706

CACNA1C

rs41276706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,760,794. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

CACNA1CConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:2760794
Cytoband
12p13.33
HGVS
NM_000719.7(CACNA1C):c.3946-12G>A
Allele change
Silent

Associated conditions / phenotypes

Long QT syndrome

Public references

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