Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr13:52971362
- GRCh38:
- Chr13:52397227
| THSD1 | | Aneurysm, intracranial berry, 12 | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr13:52952757
- GRCh38:
- Chr13:52378622
| THSD1 | R450*, R397* | Aneurysm, intracranial berry, 12 | Pathogenic
(Feb 10, 2023) | no assertion criteria provided |