Variant (rsID / SNP)
rs216008
rs216008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,721,137. Clinical significance in the table: Benign.
Reference-table entries
CACNA1CBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:2721137
- Cytoband
- 12p13.33
- HGVS
- NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=)
- Allele change
- Synonymous_F1282F
Associated conditions / phenotypes
Cardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome|Timothy syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.