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- databases for immunodeficiency-causing variations

   SH2D1Abase
   Variation registry for  X-linked lymphoproliferative syndrome (XLP)


SH2D1Abase mutation types

SH2D1Abase mutation types

The number of analyzed patients
Missense38
Nonsense30
Deletion frameshift19
Deletion undefined29
Insertion frameshift4
Splice site frameshift2
Splice site undefined10
Upstream1
Total133
  
The number of unrelated patients
Missense28
Nonsense26
Deletion frameshift13
Deletion undefined25
Insertion frameshift3
Splice site frameshift2
Splice site undefined9
Upstream1
Total107