Variants
CACNA1C variants
The 4 CACNA1C variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.1114-304G>A | Intron 7 | 2,504,538 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| E1115K | c.3343G>A | Exon 26 | 2,607,117 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G406R | c.1216G>A | Exon 8 | 2,504,944 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R518H | c.1553G>A | Exon 12 | 2,566,466 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |