RS121908739 ADA
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What This Variant Does
"Hot spot mutations in adenosine deaminase deficiency. [OMIM:?]
Associated Conditions
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-negative
due to adenosine deaminase deficiency
Severe combined immunodeficiency disease
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-negative
due to adenosine deaminase deficiency
Severe combined immunodeficiency disease
Other Variants in ADA