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93 records found for search term Abcc5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15104285CV730197single nucleotide variantNM_005688.4(ABCC5):c.825+10G>Anot provided [RCV000892853]benign3183982764183982764Humanname
401927598CV2825087single nucleotide variantNM_005688.4(ABCC5):c.591+2369C>Tnot provided [RCV003439062]benign3183985401183985401Humanname
401885830CV2771416single nucleotide variantNM_005688.4(ABCC5):c.11T>A (p.Ile4Asn)not specified [RCV004348469]uncertain significance3184014382184014382Humanname
597645450CV3554745single nucleotide variantNM_005688.4(ABCC5):c.86C>T (p.Thr29Met)not specified [RCV004826131]uncertain significance3184014307184014307Humanname
150506498CV1242228single nucleotide variantNM_005688.4(ABCC5):c.1782T>C (p.Cys594=)not provided [RCV001658582]benign3183967746183967746Humanname
401923007CV2825085single nucleotide variantNM_005688.4(ABCC5):c.2700G>A (p.Ser900=)not provided [RCV003434810]likely benign3183951971183951971Humanname
405674588CV3286370single nucleotide variantNM_005688.4(ABCC5):c.113T>C (p.Phe38Ser)not specified [RCV004420350]uncertain significance3184014280184014280Humanname
405674881CV3286418single nucleotide variantNM_005688.4(ABCC5):c.220G>A (p.Glu74Lys)not specified [RCV004420398]uncertain significance3183989293183989293Humanname
597663696CV3564727single nucleotide variantNM_005688.4(ABCC5):c.164G>A (p.Arg55Gln)not specified [RCV004828824]uncertain significance3183989349183989349Humanname
155982411CV2208761single nucleotide variantNM_005688.4(ABCC5):c.734G>A (p.Arg245Gln)not specified [RCV004084947]uncertain significance3183982865183982865Humanname
155985697CV2247893single nucleotide variantNM_005688.4(ABCC5):c.896G>A (p.Gly299Glu)not specified [RCV004121338]uncertain significance3183982554183982554Humanname
155986387CV2247971single nucleotide variantNM_005688.4(ABCC5):c.752G>A (p.Arg251Gln)not specified [RCV004121400]uncertain significance3183982847183982847Humanname
156359282CV2257630single nucleotide variantNM_005688.4(ABCC5):c.490G>A (p.Ala164Thr)not specified [RCV004127730]uncertain significance3183987871183987871Humanname
156150660CV2307494single nucleotide variantNM_005688.4(ABCC5):c.671G>A (p.Gly224Asp)not specified [RCV004166148]uncertain significance3183982928183982928Humanname
156062640CV2380393single nucleotide variantNM_005688.4(ABCC5):c.628G>A (p.Ala210Thr)not specified [RCV004218002]uncertain significance3183982971183982971Humanname
156044029CV2381600single nucleotide variantNM_005688.4(ABCC5):c.420G>C (p.Glu140Asp)not specified [RCV004232075]uncertain significance3183988595183988595Humanname
156080108CV2384591single nucleotide variantNM_005688.4(ABCC5):c.506G>A (p.Arg169Lys)not specified [RCV004232376]uncertain significance3183987855183987855Humanname
155957431CV2387490single nucleotide variantNM_005688.4(ABCC5):c.922A>G (p.Met308Val)not specified [RCV004240349]uncertain significance3183982528183982528Humanname
329393365CV2449682single nucleotide variantNM_005688.4(ABCC5):c.540C>G (p.Ile180Met)not specified [RCV004268588]uncertain significance3183987821183987821Humanname
401863029CV2765941single nucleotide variantNM_005688.4(ABCC5):c.836T>C (p.Ile279Thr)not specified [RCV004337966]uncertain significance3183982614183982614Humanname
401890993CV2778585single nucleotide variantNM_005688.4(ABCC5):c.503G>A (p.Arg168Gln)not specified [RCV004344236]uncertain significance3183987858183987858Humanname
405684808CV3282665single nucleotide variantNM_005688.4(ABCC5):c.518T>A (p.Ile173Asn)not specified [RCV004422476]uncertain significance3183987843183987843Humanname
405684616CV3286474single nucleotide variantNM_005688.4(ABCC5):c.358C>T (p.Arg120Cys)not specified [RCV004422435]uncertain significance3183988657183988657Humanname
405684632CV3286477single nucleotide variantNM_005688.4(ABCC5):c.359G>A (p.Arg120His)not specified [RCV004422438]uncertain significance3183988656183988656Humanname
597646377CV3554966single nucleotide variantNM_005688.4(ABCC5):c.704C>T (p.Ser235Leu)not specified [RCV004826239]uncertain significance3183982895183982895Humanname
597640102CV3557992single nucleotide variantNM_005688.4(ABCC5):c.550G>A (p.Val184Met)not specified [RCV004825235]uncertain significance3183987811183987811Humanname
597663715CV3564749single nucleotide variantNM_005688.4(ABCC5):c.488A>G (p.Asp163Gly)not specified [RCV004828826]uncertain significance3183987873183987873Humanname
598229407CV3982910single nucleotide variantNM_005688.4(ABCC5):c.449A>G (p.Glu150Gly)not specified [RCV005381018]uncertain significance3183987912183987912Humanname
598189711CV3993951single nucleotide variantNM_005688.4(ABCC5):c.599T>C (p.Met200Thr)not specified [RCV005373922]uncertain significance3183983000183983000Humanname
15178824CV720314single nucleotide variantNM_005688.4(ABCC5):c.3213G>A (p.Gln1071=)not provided [RCV000885149]benign3183949767183949767Humanname
155925070CV2248942single nucleotide variantNM_005688.4(ABCC5):c.1270C>G (p.Leu424Val)not specified [RCV004115942]uncertain significance3183978529183978529Humanname
156113673CV2261465single nucleotide variantNM_005688.4(ABCC5):c.2476G>A (p.Glu826Lys)not specified [RCV004130086]uncertain significance3183959739183959739Humanname
155978988CV2266580single nucleotide variantNM_005688.4(ABCC5):c.1279G>A (p.Asp427Asn)not specified [RCV004131130]uncertain significance3183978520183978520Humanname
156102949CV2313656single nucleotide variantNM_005688.4(ABCC5):c.1949A>G (p.Asp650Gly)not specified [RCV004157587]uncertain significance3183965386183965386Humanname
156347846CV2315491single nucleotide variantNM_005688.4(ABCC5):c.1727G>A (p.Arg576Lys)not specified [RCV004167436]uncertain significance3183971597183971597Humanname
156253671CV2325552single nucleotide variantNM_005688.4(ABCC5):c.2014A>G (p.Ser672Gly)not specified [RCV004179985]uncertain significance3183965202183965202Humanname
156187212CV2332723single nucleotide variantNM_005688.4(ABCC5):c.2665G>A (p.Gly889Arg)not specified [RCV004189397]uncertain significance3183953088183953088Humanname
156263100CV2391657single nucleotide variantNM_005688.4(ABCC5):c.1718G>A (p.Arg573His)not specified [RCV004241817]uncertain significance3183971606183971606Humanname
401728422CV2672925single nucleotide variantNM_005688.4(ABCC5):c.2383A>G (p.Asn795Asp)not specified [RCV004283928]uncertain significance3183959832183959832Humanname
401768323CV2675250single nucleotide variantNM_005688.4(ABCC5):c.1663G>A (p.Glu555Lys)not specified [RCV004290017]uncertain significance3183971661183971661Humanname
401778661CV2735443single nucleotide variantNM_005688.4(ABCC5):c.2870G>A (p.Arg957Gln)not specified [RCV004331003]uncertain significance3183951515183951515Humanname
401855352CV2757263single nucleotide variantNM_005688.4(ABCC5):c.2897C>A (p.Thr966Asn)not specified [RCV004338854]uncertain significance3183951488183951488Humanname
401881457CV2783841single nucleotide variantNM_005688.4(ABCC5):c.1243G>A (p.Val415Met)not specified [RCV004360744]uncertain significance3183978556183978556Humanname
401882005CV2784035single nucleotide variantNM_005688.4(ABCC5):c.2222C>T (p.Thr741Ile)not specified [RCV004362439]uncertain significance3183963398183963398Humanname
401927715CV2825086single nucleotide variantNM_005688.4(ABCC5):c.1502C>A (p.Ser501Tyr)not provided [RCV003439061]likely benign3183971822183971822Humanname
405674608CV3286375single nucleotide variantNM_005688.4(ABCC5):c.1166G>A (p.Arg389His)not specified [RCV004420355]uncertain significance3183978633183978633Humanname
405674784CV3286394single nucleotide variantNM_005688.4(ABCC5):c.1279G>C (p.Asp427His)not specified [RCV004420374]uncertain significance3183978520183978520Humanname
405674837CV3286407single nucleotide variantNM_005688.4(ABCC5):c.1907A>G (p.Asn636Ser)not specified [RCV004420387]uncertain significance3183965428183965428Humanname
405674940CV3286433single nucleotide variantNM_005688.4(ABCC5):c.2518T>G (p.Ser840Ala)not specified [RCV004420413]uncertain significance3183953235183953235Humanname
405674950CV3286436single nucleotide variantNM_005688.4(ABCC5):c.2584A>T (p.Ile862Phe)not specified [RCV004420416]uncertain significance3183953169183953169Humanname
597645407CV3554725single nucleotide variantNM_005688.4(ABCC5):c.2837G>A (p.Arg946Gln)not specified [RCV004826126]uncertain significance3183951548183951548Humanname
597645614CV3554830single nucleotide variantNM_005688.4(ABCC5):c.2285C>T (p.Thr762Met)not specified [RCV004826155]uncertain significance3183961605183961605Humanname
597646343CV3554924single nucleotide variantNM_005688.4(ABCC5):c.2840T>C (p.Leu947Pro)not specified [RCV004826234]uncertain significance3183951545183951545Humanname
597663337CV3555100single nucleotide variantNM_005688.4(ABCC5):c.2536T>C (p.Tyr846His)not specified [RCV004828782]uncertain significance3183953217183953217Humanname
597644436CV3557910single nucleotide variantNM_005688.4(ABCC5):c.1604G>A (p.Arg535His)not specified [RCV004825961]uncertain significance3183971720183971720Humanname
597640262CV3558092single nucleotide variantNM_005688.4(ABCC5):c.2819C>T (p.Thr940Met)not specified [RCV004825261]uncertain significance3183951566183951566Humanname
597663689CV3564656single nucleotide variantNM_005688.4(ABCC5):c.1430A>G (p.His477Arg)not specified [RCV004828823]uncertain significance3183971894183971894Humanname
597663781CV3564784single nucleotide variantNM_005688.4(ABCC5):c.1885G>A (p.Ala629Thr)not specified [RCV004828834]uncertain significance3183965450183965450Humanname
598229950CV3983043single nucleotide variantNM_005688.4(ABCC5):c.1088C>G (p.Thr363Ser)not specified [RCV005381109]uncertain significance3183981786183981786Humanname
598230274CV3983117single nucleotide variantNM_005688.4(ABCC5):c.2233C>G (p.Gln745Glu)not specified [RCV005381163]uncertain significance3183963387183963387Humanname
598264052CV3983172single nucleotide variantNM_005688.4(ABCC5):c.1048G>A (p.Ala350Thr)not specified [RCV005387665]uncertain significance3183981826183981826Humanname
598189037CV3983275single nucleotide variantNM_005688.4(ABCC5):c.1483G>A (p.Ala495Thr)not specified [RCV005373808]uncertain significance3183971841183971841Humanname
598189228CV3983325single nucleotide variantNM_005688.4(ABCC5):c.1067A>G (p.Gln356Arg)not specified [RCV005373840]uncertain significance3183981807183981807Humanname
598263616CV3986599single nucleotide variantNM_005688.4(ABCC5):c.2883G>T (p.Lys961Asn)not specified [RCV005387507]uncertain significance3183951502183951502Humanname
598228577CV3986690single nucleotide variantNM_005688.4(ABCC5):c.2059G>A (p.Gly687Ser)not specified [RCV005380899]uncertain significance3183963561183963561Humanname
8689357CV97445single nucleotide variantNM_005688.4(ABCC5):c.1925A>G (p.Asn642Ser)not provided [RCV000122524]uncertain significance3183965410183965410Humanname
155927792CV2218470single nucleotide variantNM_005688.4(ABCC5):c.4300G>A (p.Ala1434Thr)not specified [RCV004090751]uncertain significance3183921314183921314Humanname
156338914CV2225007single nucleotide variantNM_005688.4(ABCC5):c.3088A>T (p.Ile1030Phe)not specified [RCV004094840]uncertain significance3183949982183949982Humanname
156312030CV2256804single nucleotide variantNM_005688.4(ABCC5):c.4147A>T (p.Thr1383Ser)not specified [RCV004121027]uncertain significance3183925620183925620Humanname
156356578CV2257455single nucleotide variantNM_005688.4(ABCC5):c.3608G>A (p.Arg1203Gln)not specified [RCV004125527]likely benign3183942813183942813Humanname
156311211CV2260141single nucleotide variantNM_005688.4(ABCC5):c.4004G>A (p.Arg1335Gln)not specified [RCV004119136]uncertain significance3183927373183927373Humanname
156363732CV2262697single nucleotide variantNM_005688.4(ABCC5):c.3664A>C (p.Lys1222Gln)not specified [RCV004130887]uncertain significance3183942757183942757Humanname
156056790CV2266647single nucleotide variantNM_005688.4(ABCC5):c.3853A>G (p.Arg1285Gly)not specified [RCV004131186]uncertain significance3183937902183937902Humanname
329357523CV2427752single nucleotide variantNM_005688.4(ABCC5):c.3916A>G (p.Thr1306Ala)not specified [RCV004252536]uncertain significance3183928764183928764Humanname
329357496CV2453624single nucleotide variantNM_005688.4(ABCC5):c.3071T>C (p.Leu1024Pro)not specified [RCV004269286]uncertain significance3183949999183949999Humanname
329395581CV2458482single nucleotide variantNM_005688.4(ABCC5):c.3905C>G (p.Ala1302Gly)not specified [RCV004267890]uncertain significance3183928775183928775Humanname
401769620CV2731476single nucleotide variantNM_005688.4(ABCC5):c.3545C>T (p.Ala1182Val)not specified [RCV004330830]uncertain significance3183942876183942876Humanname
405265353CV3185592single nucleotide variantNM_005688.4(ABCC5):c.3203A>G (p.Asn1068Ser)not provided [RCV003886156]likely benign3183949777183949777Humanname
405684663CV3282634single nucleotide variantNM_005688.4(ABCC5):c.3842G>T (p.Ser1281Ile)not specified [RCV004422445]uncertain significance3183937913183937913Humanname
405684373CV3286447single nucleotide variantNM_005688.4(ABCC5):c.3013G>C (p.Gly1005Arg)not specified [RCV004422408]uncertain significance3183950057183950057Humanname
405684405CV3286453single nucleotide variantNM_005688.4(ABCC5):c.3109C>T (p.Arg1037Trp)not specified [RCV004422414]uncertain significance3183949871183949871Humanname
405684436CV3286460single nucleotide variantNM_005688.4(ABCC5):c.3419C>T (p.Thr1140Met)not specified [RCV004422421]uncertain significance3183945935183945935Humanname
405684461CV3286465single nucleotide variantNM_005688.4(ABCC5):c.3533T>G (p.Ile1178Ser)not specified [RCV004422426]uncertain significance3183942888183942888Humanname
407505850CV3466047single nucleotide variantNM_005688.4(ABCC5):c.3754A>G (p.Lys1252Glu)not specified [RCV004646237]uncertain significance3183938001183938001Humanname
407505990CV3466145single nucleotide variantNM_005688.4(ABCC5):c.4027G>A (p.Ala1343Thr)not specified [RCV004646277]uncertain significance3183927350183927350Humanname
407528085CV3466244single nucleotide variantNM_005688.4(ABCC5):c.3122G>T (p.Arg1041Leu)not specified [RCV004655408]uncertain significance3183949858183949858Humanname
597646599CV3555036single nucleotide variantNM_005688.4(ABCC5):c.3208G>A (p.Gly1070Arg)not specified [RCV004826271]uncertain significance3183949772183949772Humanname
597644430CV3557890single nucleotide variantNM_005688.4(ABCC5):c.3884C>T (p.Thr1295Ile)not specified [RCV004825960]uncertain significance3183928796183928796Humanname
597664365CV3564862single nucleotide variantNM_005688.4(ABCC5):c.3376C>T (p.Pro1126Ser)not specified [RCV004828904]uncertain significance3183947362183947362Humanname
597664593CV3564913single nucleotide variantNM_005688.4(ABCC5):c.3598A>G (p.Met1200Val)not specified [RCV004828933]uncertain significance3183942823183942823Humanname
598263864CV3982946single nucleotide variantNM_005688.4(ABCC5):c.3625G>A (p.Val1209Ile)not specified [RCV005387596]uncertain significance3183942796183942796Humanname
598273497CV3993899single nucleotide variantNM_005688.4(ABCC5):c.3352G>T (p.Val1118Phe)not specified [RCV005389704]uncertain significance3183947386183947386Humanname
598189843CV3993986single nucleotide variantNM_005688.4(ABCC5):c.3982G>A (p.Asp1328Asn)not specified [RCV005373950]uncertain significance3183927395183927395Humanname