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98 records found for search term Manea
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405656891CV3288375single nucleotide variantNM_024641.4(MANEA):c.14G>A (p.Arg5Gln)not specified [RCV004415971]uncertain significance69558645395586453Humanname
401895836CV2768861single nucleotide variantNM_024641.4(MANEA):c.74G>A (p.Gly25Asp)not specified [RCV004346974]uncertain significance69558651395586513Humanname
407493402CV3446337single nucleotide variantNM_024641.4(MANEA):c.46A>G (p.Ile16Val)not specified [RCV004642727]uncertain significance69558648595586485Humanname
597624079CV3702804single nucleotide variantNM_024641.4(MANEA):c.78A>T (p.Leu26Phe)not specified [RCV004937098]uncertain significance69558651795586517Humanname
156118041CV2209217single nucleotide variantNM_024641.4(MANEA):c.229A>C (p.Lys77Gln)not specified [RCV004093411]uncertain significance69558666895586668Humanname
156097772CV2310295single nucleotide variantNM_024641.4(MANEA):c.244A>C (p.Thr82Pro)not specified [RCV004157038]uncertain significance69558668395586683Humanname
156263323CV2368639single nucleotide variantNM_024641.4(MANEA):c.100G>T (p.Ala34Ser)not specified [RCV004221415]uncertain significance69558653995586539Humanname
156168769CV2399185single nucleotide variantNM_024641.4(MANEA):c.113C>T (p.Ala38Val)not specified [RCV004246615]uncertain significance69558655295586552Humanname
329399358CV2446843single nucleotide variantNM_024641.4(MANEA):c.233G>C (p.Ser78Thr)not specified [RCV004257697]uncertain significance69558667295586672Humanname
405656895CV3288376single nucleotide variantNM_024641.4(MANEA):c.202A>G (p.Asn68Asp)not specified [RCV004415972]uncertain significance69558664195586641Humanname
597624075CV3702800single nucleotide variantNM_024641.4(MANEA):c.260A>G (p.Lys87Arg)not specified [RCV004937094]uncertain significance69558669995586699Humanname
156232776CV2227705single nucleotide variantNM_024641.4(MANEA):c.862C>T (p.Arg288Trp)not specified [RCV004094095]uncertain significance69560587895605878Humanname
156334175CV2230885single nucleotide variantNM_024641.4(MANEA):c.875A>G (p.Asn292Ser)not specified [RCV004092361]uncertain significance69560589195605891Humanname
156064553CV2316163single nucleotide variantNM_024641.4(MANEA):c.398C>G (p.Pro133Arg)not specified [RCV004174208]uncertain significance69558683795586837Humanname
156356165CV2320737single nucleotide variantNM_024641.4(MANEA):c.701T>C (p.Met234Thr)not specified [RCV004179085]uncertain significance69560487395604873Humanname
156248951CV2394028single nucleotide variantNM_024641.4(MANEA):c.767C>T (p.Thr256Met)not specified [RCV004236246]uncertain significance69560578395605783Humanname
156094791CV2398878single nucleotide variantNM_024641.4(MANEA):c.419C>T (p.Pro140Leu)not specified [RCV004245198]uncertain significance69558685895586858Humanname
329382708CV2424529single nucleotide variantNM_024641.4(MANEA):c.365A>G (p.His122Arg)not specified [RCV004252411]uncertain significance69558680495586804Humanname
329360185CV2446630single nucleotide variantNM_024641.4(MANEA):c.784C>T (p.Leu262Phe)not specified [RCV004251518]uncertain significance69560580095605800Humanname
329389169CV2448633single nucleotide variantNM_024641.4(MANEA):c.502G>C (p.Val168Leu)not specified [RCV004259303]uncertain significance69558694195586941Humanname
401757709CV2707925single nucleotide variantNM_024641.4(MANEA):c.835G>A (p.Ala279Thr)not specified [RCV004309190]uncertain significance69560585195605851Humanname
401880253CV2783146single nucleotide variantNM_024641.4(MANEA):c.979A>G (p.Asn327Asp)not specified [RCV004363496]uncertain significance69560599595605995Humanname
405656899CV3288377single nucleotide variantNM_024641.4(MANEA):c.356A>T (p.Lys119Ile)not specified [RCV004415973]uncertain significance69558679595586795Humanname
405656903CV3288378single nucleotide variantNM_024641.4(MANEA):c.431A>T (p.His144Leu)not specified [RCV004415974]uncertain significance69558687095586870Humanname
405656906CV3288379single nucleotide variantNM_024641.4(MANEA):c.432C>G (p.His144Gln)not specified [RCV004415975]uncertain significance69558687195586871Humanname
405656909CV3288380single nucleotide variantNM_024641.4(MANEA):c.449T>C (p.Ile150Thr)not specified [RCV004415976]uncertain significance69558688895586888Humanname
405656913CV3288381single nucleotide variantNM_024641.4(MANEA):c.455C>T (p.Ser152Phe)not specified [RCV004415977]uncertain significance69558689495586894Humanname
405656917CV3288382single nucleotide variantNM_024641.4(MANEA):c.491G>A (p.Arg164Gln)not specified [RCV004415978]uncertain significance69558693095586930Humanname
405657123CV3288383single nucleotide variantNM_024641.4(MANEA):c.535G>T (p.Ala179Ser)not specified [RCV004415979]uncertain significance69558697495586974Humanname
405657120CV3288384single nucleotide variantNM_024641.4(MANEA):c.593G>A (p.Gly198Glu)not specified [RCV004415980]uncertain significance69559678595596785Humanname
405657114CV3288386single nucleotide variantNM_024641.4(MANEA):c.947G>C (p.Gly316Ala)not specified [RCV004415982]uncertain significance69560596395605963Humanname
407493397CV3446336single nucleotide variantNM_024641.4(MANEA):c.767C>G (p.Thr256Arg)not specified [RCV004642726]uncertain significance69560578395605783Humanname
407493406CV3446338single nucleotide variantNM_024641.4(MANEA):c.668T>G (p.Ile223Arg)not specified [RCV004642728]uncertain significance69560484095604840Humanname
407493414CV3446340single nucleotide variantNM_024641.4(MANEA):c.700A>G (p.Met234Val)not specified [RCV004642730]uncertain significance69560487295604872Humanname
597624072CV3702797single nucleotide variantNM_024641.4(MANEA):c.557T>C (p.Leu186Pro)not specified [RCV004937091]uncertain significance69559674995596749Humanname
597624076CV3702801single nucleotide variantNM_024641.4(MANEA):c.554C>G (p.Ala185Gly)not specified [RCV004937095]uncertain significance69559674695596746Humanname
597624078CV3702803single nucleotide variantNM_024641.4(MANEA):c.725T>A (p.Ile242Lys)not specified [RCV004937097]uncertain significance69560489795604897Humanname
598185170CV3988477single nucleotide variantNM_024641.4(MANEA):c.412A>G (p.Asn138Asp)not specified [RCV005373206]uncertain significance69558685195586851Humanname
155934160CV2229095single nucleotide variantNM_024641.4(MANEA):c.1267G>C (p.Val423Leu)not specified [RCV004098865]uncertain significance69560628395606283Humanname
156077528CV2230293single nucleotide variantNM_024641.4(MANEA):c.1029A>T (p.Leu343Phe)not specified [RCV004099905]uncertain significance69560604595606045Humanname
401736850CV2699612single nucleotide variantNM_024641.4(MANEA):c.1264A>G (p.Thr422Ala)not specified [RCV004299799]uncertain significance69560628095606280Humanname
405656888CV3288374single nucleotide variantNM_024641.4(MANEA):c.1309G>C (p.Glu437Gln)not specified [RCV004415970]uncertain significance69560632595606325Humanname
407493410CV3446339single nucleotide variantNM_024641.4(MANEA):c.1234G>C (p.Glu412Gln)not specified [RCV004642729]uncertain significance69560625095606250Humanname
597624074CV3702799single nucleotide variantNM_024641.4(MANEA):c.1088C>G (p.Thr363Ser)not specified [RCV004937093]uncertain significance69560610495606104Humanname
597624077CV3702802single nucleotide variantNM_024641.4(MANEA):c.1243G>A (p.Val415Ile)not specified [RCV004937096]uncertain significance69560625995606259Humanname
598185163CV3988476single nucleotide variantNM_024641.4(MANEA):c.1202C>G (p.Ser401Cys)not specified [RCV005373205]uncertain significance69560621895606218Humanname
598165743CV3988479single nucleotide variantNM_024641.4(MANEA):c.1282C>T (p.Arg428Cys)not specified [RCV005369224]uncertain significance69560629895606298Humanname
598165751CV3988480single nucleotide variantNM_024641.4(MANEA):c.1273C>G (p.Leu425Val)not specified [RCV005369225]uncertain significance69560628995606289Humanname
598165757CV3988481single nucleotide variantNM_024641.4(MANEA):c.1112A>C (p.Gln371Pro)not specified [RCV005369226]uncertain significance69560612895606128Humanname
598165766CV3988482single nucleotide variantNM_024641.4(MANEA):c.1195A>G (p.Ile399Val)not specified [RCV005369227]uncertain significance69560621195606211Humanname
38598728CV964800duplicationNM_001113482.2(MANEAL):c.446dup (p.Asp150fs)MANEAL-associated disorder [RCV001254029]likely pathogenic13779462237794623Humanname , trait
156333126CV2335933single nucleotide variantNM_001113482.2(MANEAL):c.22G>A (p.Ala8Thr)not specified [RCV004189544]uncertain significance13779420437794204Humanname
401762719CV2720043single nucleotide variantNM_001113482.2(MANEAL):c.615C>T (p.Asp205=)not specified [RCV004323618]likely benign13779580137795801Humanname
156109101CV2211129single nucleotide variantNM_001113482.2(MANEAL):c.236A>C (p.Asp79Ala)not specified [RCV004088300]likely benign13779441837794418Humanname
156096438CV2253119single nucleotide variantNM_001113482.2(MANEAL):c.200C>G (p.Ala67Gly)not specified [RCV004120899]uncertain significance13779438237794382Humanname
155928170CV2346502single nucleotide variantNM_001113482.2(MANEAL):c.121G>A (p.Gly41Ser)not specified [RCV004206424]uncertain significance13779430337794303Humanname
329369336CV2450609single nucleotide variantNM_001113482.2(MANEAL):c.182C>A (p.Ala61Asp)not specified [RCV004265502]uncertain significance13779436437794364Humanname
405657099CV3288391single nucleotide variantNM_001113482.2(MANEAL):c.263C>A (p.Pro88His)not specified [RCV004415987]uncertain significance13779444537794445Humanname
407493439CV3446347single nucleotide variantNM_001113482.2(MANEAL):c.272C>T (p.Ala91Val)not specified [RCV004642736]uncertain significance13779445437794454Humanname
156397330CV2200297single nucleotide variantNM_001113482.2(MANEAL):c.505G>C (p.Glu169Gln)not specified [RCV004076634]uncertain significance13779468737794687Humanname
155968383CV2234291single nucleotide variantNM_001113482.2(MANEAL):c.949G>A (p.Ala317Thr)not specified [RCV004106357]uncertain significance13779977837799778Humanname
155920118CV2279542single nucleotide variantNM_001113482.2(MANEAL):c.884C>T (p.Thr295Met)not specified [RCV004142055]uncertain significance13779971337799713Humanname
156092741CV2300163single nucleotide variantNM_001113482.2(MANEAL):c.365A>G (p.Tyr122Cys)not specified [RCV004151353]uncertain significance13779454737794547Humanname
156059667CV2323031single nucleotide variantNM_001113482.2(MANEAL):c.635A>G (p.Asp212Gly)not specified [RCV004185456]uncertain significance13779582137795821Humanname
156164427CV2323672single nucleotide variantNM_001113482.2(MANEAL):c.986A>G (p.Asn329Ser)not specified [RCV004165851]uncertain significance13779981537799815Humanname
156282744CV2348881single nucleotide variantNM_001113482.2(MANEAL):c.352C>T (p.Arg118Cys)not specified [RCV004603328]uncertain significance13779453437794534Humanname
329372575CV2451551single nucleotide variantNM_001113482.2(MANEAL):c.763C>T (p.Arg255Cys)not specified [RCV004274490]uncertain significance13779959237799592Humanname
329387834CV2471029single nucleotide variantNM_001113482.2(MANEAL):c.806T>A (p.Ile269Asn)not specified [RCV004277992]uncertain significance13779963537799635Humanname
401747146CV2692079single nucleotide variantNM_001113482.2(MANEAL):c.841G>T (p.Ala281Ser)not specified [RCV004301794]uncertain significance13779967037799670Humanname
401868400CV2767226single nucleotide variantNM_001113482.2(MANEAL):c.966G>A (p.Met322Ile)not specified [RCV004349405]uncertain significance13779979537799795Humanname
401865732CV2778968single nucleotide variantNM_001113482.2(MANEAL):c.646C>G (p.Gln216Glu)not specified [RCV004348627]uncertain significance13779583237795832Humanname
401872364CV2779619single nucleotide variantNM_001113482.2(MANEAL):c.908C>T (p.Ala303Val)not specified [RCV004351324]uncertain significance13779973737799737Humanname
401866617CV2782895single nucleotide variantNM_001113482.2(MANEAL):c.399G>T (p.Trp133Cys)not specified [RCV004361698]uncertain significance13779458137794581Humanname
405657096CV3288392single nucleotide variantNM_001113482.2(MANEAL):c.742G>C (p.Gly248Arg)not specified [RCV004415988]uncertain significance13779957137799571Humanname
405657094CV3288393single nucleotide variantNM_001113482.2(MANEAL):c.748C>T (p.His250Tyr)not specified [RCV004415989]uncertain significance13779957737799577Humanname
405657089CV3288394single nucleotide variantNM_001113482.2(MANEAL):c.749A>G (p.His250Arg)not specified [RCV004415990]uncertain significance13779957837799578Humanname
407493418CV3446341single nucleotide variantNM_001113482.2(MANEAL):c.305A>T (p.Tyr102Phe)not specified [RCV004642731]uncertain significance13779448737794487Humanname
407493423CV3446342single nucleotide variantNM_001113482.2(MANEAL):c.710A>G (p.His237Arg)not specified [RCV004642732]uncertain significance13779679337796793Humanname
407493430CV3446344single nucleotide variantNM_001113482.2(MANEAL):c.298C>A (p.Arg100Ser)not specified [RCV004642734]likely benign13779448037794480Humanname
598185176CV3988483single nucleotide variantNM_001113482.2(MANEAL):c.824C>T (p.Thr275Met)not specified [RCV005373207]uncertain significance13779965337799653Humanname
598165772CV3988484single nucleotide variantNM_001113482.2(MANEAL):c.921G>C (p.Glu307Asp)not specified [RCV005369228]uncertain significance13779975037799750Humanname
598185183CV3988485single nucleotide variantNM_001113482.2(MANEAL):c.470A>T (p.Tyr157Phe)not specified [RCV005373208]uncertain significance13779465237794652Humanname
598185195CV3988488single nucleotide variantNM_001113482.2(MANEAL):c.679C>A (p.Pro227Thr)not specified [RCV005373210]uncertain significance13779676237796762Humanname
156397946CV2194001single nucleotide variantNM_001113482.2(MANEAL):c.1195G>A (p.Val399Ile)not specified [RCV004076769]uncertain significance13780002437800024Humanname
156025747CV2274011single nucleotide variantNM_001113482.2(MANEAL):c.1207T>G (p.Ser403Ala)not specified [RCV004134399]uncertain significance13780003637800036Humanname
156347321CV2349577single nucleotide variantNM_001113482.2(MANEAL):c.1049A>G (p.Asn350Ser)not specified [RCV004204004]uncertain significance13779987837799878Humanname
155968239CV2391435single nucleotide variantNM_001113482.2(MANEAL):c.1334C>T (p.Ala445Val)not specified [RCV004239830]uncertain significance13780016337800163Humanname
329361216CV2459499single nucleotide variantNM_001113482.2(MANEAL):c.1126C>T (p.Arg376Cys)not specified [RCV004276963]uncertain significance13779995537799955Humanname
329387832CV2471028single nucleotide variantNM_001113482.2(MANEAL):c.1184G>A (p.Arg395Lys)not specified [RCV004277991]uncertain significance13780001337800013Humanname
401750066CV2695925single nucleotide variantNM_001113482.2(MANEAL):c.1157C>T (p.Thr386Met)not specified [RCV004308198]uncertain significance13779998637799986Humanname
405657111CV3288387single nucleotide variantNM_001113482.2(MANEAL):c.1034A>G (p.Asn345Ser)not specified [RCV004415983]uncertain significance13779986337799863Humanname
405657109CV3288388single nucleotide variantNM_001113482.2(MANEAL):c.1088T>C (p.Ile363Thr)not specified [RCV004415984]uncertain significance13779991737799917Humanname
405657105CV3288389single nucleotide variantNM_001113482.2(MANEAL):c.1090G>A (p.Asp364Asn)not specified [RCV004415985]uncertain significance13779991937799919Humanname
405657102CV3288390single nucleotide variantNM_001113482.2(MANEAL):c.1186C>T (p.Pro396Ser)not specified [RCV004415986]uncertain significance13780001537800015Humanname
407493434CV3446345single nucleotide variantNM_001113482.2(MANEAL):c.1189G>A (p.Glu397Lys)not specified [RCV004642735]uncertain significance13780001837800018Humanname
407468921CV3446346single nucleotide variantNM_001113482.2(MANEAL):c.1051A>C (p.Asn351His)not specified [RCV004636448]uncertain significance13779988037799880Humanname
597624080CV3702805single nucleotide variantNM_001113482.2(MANEAL):c.1087A>G (p.Ile363Val)not specified [RCV004937099]uncertain significance13779991637799916Humanname
598165778CV3988486single nucleotide variantNM_001113482.2(MANEAL):c.1036T>G (p.Phe346Val)not specified [RCV005369229]uncertain significance13779986537799865Humanname