- databases for immunodeficiency-causing variations
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IFNGR1base
Variation registry for IFNγ1-receptor deficiency
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IFNGR1base mutation types
IFNGR1base mutation types
The number of analyzed patients
Missense
14
Nonsense
4
Deletion inframe
1
Deletion frameshift
51
Insertion frameshift
6
Splice site inframe
1
Splice site frameshift
2
Total
79
The number of unrelated patients
Missense
12
Nonsense
3
Deletion inframe
1
Deletion frameshift
35
Insertion frameshift
4
Splice site inframe
1
Splice site frameshift
2
Total
58
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025
