Variant (rsID / SNP)
rs1051375
rs1051375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,788,879. Clinical significance in the table: Benign.
Reference-table entries
CACNA1CBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:2788879
- Cytoband
- 12p13.33
- HGVS
- NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)
- Allele change
- Synonymous_T1807T
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.