Variants
BRAF variants
The 10 BRAF variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A246P | c.736G>C | Exon 6 | 140,801,536 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.735A>T | Exon 6 | 140,801,537 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.739T>C | Exon 6 | 140,801,533 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| F247L | c.741T>G | Exon 6 | 140,801,531 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F247S | c.740T>C | Exon 6 | 140,801,532 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F247V | c.739T>G | Exon 6 | 140,801,533 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L245F | c.735A>C | Exon 6 | 140,801,537 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N581D | c.1741A>G | Exon 14 | 140,754,187 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q257R | c.770A>G | Exon 6 | 140,801,502 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T244P | c.730A>C | Exon 6 | 140,801,542 | Pathogenic | 3 stars out of 4 reviewed by expert panel |