Variant (rsID / SNP)
rs121912775
rs121912775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,659,186. 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
- 12:2659186
- Cytoband
- 12p13.33
- HGVS
- NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
- Allele change
- Missense_G490R
Associated conditions / phenotypes
Brugada syndrome 3|Brugada syndrome|Timothy syndrome|Cardiovascular phenotype|Long QT syndrome|Long QT syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.