GENETIC ENCYCLOPEDIA
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disease: Bare lymphocyte syndrome 2

id486
nameBare lymphocyte syndrome 2
variant-disease NM_000538.3(RFXAP):c.-144G>A AND Bare lymphocyte syndrome 2
NM_000246.3(CIITA):c.2709G>A (p.Gly903=) AND Bare lymphocyte syndrome 2
NM_000246.3(CIITA):c.*493T>C AND Bare lymphocyte syndrome 2
NM_000246.3(CIITA):c.1926C>T (p.Val642=) AND Bare lymphocyte syndrome 2
NM_000538.3(RFXAP):c.801T>C (p.Phe267=) AND Bare lymphocyte syndrome 2
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