Variants
MAP2K1 variants
The 3 MAP2K1 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 |
|---|---|---|---|---|---|
| D67N | c.199G>A | Exon 2 | 66,435,145 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y130C | c.389A>G | Exon 3 | 66,436,843 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y130H | c.388T>C | Exon 3 | 66,436,842 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |