Variant (rsID / SNP)
rs398123517
rs398123517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,675,633. 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
- 12:2675633
- Cytoband
- 12p13.33
- HGVS
- NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)
- Allele change
- Synonymous_R518R
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.