Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:153963995-153963996
- GRCh38:
- Chr1:153991519-153991520
| LOC126805872, RPS27 | | Diamond-Blackfan anemia 17 | Benign
(Nov 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:153963673
- GRCh38:
- Chr1:153991197
| LOC126805872, RPS27 | Y31fs | Diamond-Blackfan anemia 17 | Pathogenic
(Mar 28, 2017) | no assertion criteria provided |