rs1057519287(-;AATC)
From SNPedia
| Carrier of a MEPAN syndrome mutation |
| Is a | genotype |
| of | rs1057519287 |
| Gene | MECR |
| Chromosome | 1 |
| Position | 29,216,612 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;AATC) | 3 | Carrier of a MEPAN syndrome mutation |
| (AATC;AATC) | 0 | common in clinvar |
Unaffected in absence of a second MECR gene mutation
