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Pathways
Variants search result for Homo sapiens
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25 records found for search term Tirap
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405285213CV3202582single nucleotide variantNM_001318777.2(TIRAP):c.-3G>ATIRAP-related disorder [RCV003909837]likely benign11126290892126290892Humanname , trait , alternate_id
404988039CV2849526single nucleotide variantNM_001318777.2(TIRAP):c.*30T>Gnot specified [RCV003490383]benign11126293717126293717Human9name
404988136CV2849460single nucleotide variantNM_001318777.2(TIRAP):c.*109A>Gnot specified [RCV003490317]benign11126293796126293796Humanname
150439207CV1275036single nucleotide variantNM_001318777.2(TIRAP):c.646+36T>Gnot provided [RCV001703283]likely benign11126293091126293091Humanname
401760440CV2718841single nucleotide variantNM_001318777.2(TIRAP):c.646+25G>Anot specified [RCV004328583]uncertain significance11126293080126293080Humanname
404987576CV2849453single nucleotide variantNM_001318777.2(TIRAP):c.67+634T>Cnot specified [RCV003490310]benign11126291595126291595Humanname
404988103CV2849536single nucleotide variantNM_001318777.2(TIRAP):c.-92-11A>Gnot specified [RCV003490393]benign11126290792126290792Humanname
405768911CV3345980single nucleotide variantNM_001318777.2(TIRAP):c.646+30C>Tnot specified [RCV004469942]uncertain significance11126293085126293085Humanname
597795147CV3610104single nucleotide variantNM_001318777.2(TIRAP):c.646+55T>Anot specified [RCV004878092]uncertain significance11126293110126293110Humanname
404987458CV2849434single nucleotide variantNM_001318777.2(TIRAP):c.646+174C>Tnot specified [RCV003490291]benign11126293229126293229Humanname
405289243CV3218174single nucleotide variantNM_001318777.2(TIRAP):c.48G>A (p.Lys16=)TIRAP-related disorder [RCV003983576]likely benign11126290942126290942Humanname , trait , alternate_id
404989257CV2849524single nucleotide variantNM_001318777.2(TIRAP):c.303G>A (p.Gln101=)not specified [RCV003490381]benign11126292712126292712Humanname
404989304CV2849525single nucleotide variantNM_001318777.2(TIRAP):c.558C>T (p.Ala186=)not specified [RCV003490382]benign11126292967126292967Humanname
405284836CV3190890single nucleotide variantNM_001318777.2(TIRAP):c.393C>T (p.Ser131=)TIRAP-related disorder [RCV003909454]benign11126292802126292802Humanname , trait , alternate_id
405291661CV3205985single nucleotide variantNM_001318777.2(TIRAP):c.510G>A (p.Gly170=)TIRAP-related disorder [RCV003964081]likely benign11126292919126292919Humanname , trait , alternate_id
405768899CV3345978single nucleotide variantNM_001318777.2(TIRAP):c.48G>T (p.Lys16Asn)not specified [RCV004469940]uncertain significance11126290942126290942Humanname
597774309CV3610103single nucleotide variantNM_001318777.2(TIRAP):c.68A>G (p.Asp23Gly)not specified [RCV004872264]uncertain significance11126292477126292477Humanname
150439094CV1274907single nucleotide variantNM_001318777.2(TIRAP):c.286G>A (p.Asp96Asn)not provided [RCV001703253]likely benign11126292695126292695Humanname
404987909CV2849508single nucleotide variantNM_001318777.2(TIRAP):c.164G>A (p.Ser55Asn)TIRAP-related disorder [RCV003984372]|not specified [RCV003490365]benign11126292573126292573Humanname , trait , alternate_id
405768882CV3345975single nucleotide variantNM_001318777.2(TIRAP):c.215C>A (p.Thr72Lys)not specified [RCV004469937]uncertain significance11126292624126292624Humanname
405768888CV3345976single nucleotide variantNM_001318777.2(TIRAP):c.230G>A (p.Ser77Asn)not specified [RCV004469938]uncertain significance11126292639126292639Humanname
8596433CV19506single nucleotide variantNM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu)Bacteremia, susceptibility [RCV000023527]|Invasive pneumococcal disease, protection against [RCV000004722]|Malaria, resistance to [RCV000004723]|Mycobacterium tuberculosis, protection against [RCV000004724]|Mycobacterium tuberculosis, susceptibility to [RCV002490312]|not provided [RCV001723536]|not pathogenic|benign|protective11126292948126292948Human4name
156284354CV2317536single nucleotide variantNM_001318777.2(TIRAP):c.376G>C (p.Gly126Arg)not specified [RCV004172492]uncertain significance11126292785126292785Humanname
405768893CV3345977single nucleotide variantNM_001318777.2(TIRAP):c.402C>G (p.Cys134Trp)not specified [RCV004469939]uncertain significance11126292811126292811Humanname
405768904CV3345979single nucleotide variantNM_001318777.2(TIRAP):c.601G>C (p.Gly201Arg)not specified [RCV004469941]uncertain significance11126293010126293010Humanname