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gene: IRAK1BP1

id134728
symbolIRAK1BP1
organismHomo sapiens
full nameinterleukin 1 receptor associated kinase 1 binding protein 1
variant-disease

NM_017934.7(PHIP):c.3706C>T (p.Arg1236Ter) AND not provided

NM_017934.7(PHIP):c.3782+3_3782+6del AND DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM

NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter) AND Syndromic intellectual disability

NM_017934.7(PHIP):c.4570del (p.Ser1524fs) AND DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM

NM_017934.7(PHIP):c.3447T>G (p.Tyr1149Ter) AND DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM

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