rs139428292(A;G)
From SNPedia
| Carrier of a mutation for thrombocytopenia-absent radius syndrome |
| Is a | genotype |
| of | rs139428292 |
| Gene | RBM8A, LOC105371260 |
| Chromosome | 1 |
| Position | 145,927,447 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Reported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikely |
| (A;G) | 3 | Carrier of a mutation for thrombocytopenia-absent radius syndrome |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of another pathogenic mutation in the RBM8A gene; see rs139428292
