RS121918573 RAG2
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What This Variant Does
"[OMIM:?]
Associated Conditions
Severe combined immunodeficiency
B cell-negative
Inborn error of immunity
Recombinase activating gene 2 deficiency
autosomal recessive
T cell-negative
NK cell-positive
Combined immunodeficiency with skin granulomas
Histiocytic medullary reticulosis
Severe combined immunodeficiency
B cell-negative
Inborn error of immunity
Recombinase activating gene 2 deficiency
autosomal recessive
T cell-negative
Population Frequencies
gnomAD ALL
0%
Other Variants in RAG2