ID-bases-logo
- databases for immunodeficiency-causing variations

   DCLRE1Cbase
   Variation registry for  Artemis deficiency


DCLRE1Cbase mutation types

DCLRE1Cbase mutation types

The number of analyzed patients
Missense6
Nonsense5
Deletion frameshift10
Deletion undefined28
Splice site frameshift5
Splice site undefined1
Total55
  
The number of unrelated patients
Missense5
Nonsense4
Deletion frameshift7
Deletion undefined25
Splice site frameshift3
Splice site undefined1
Total45