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67 records found for search term Tbc1d5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405292596CV3192570duplicationNM_001349074.2(TBC1D5):c.1246-3dupTBC1D5-related disorder [RCV003929821]likely benign31725859317258594Humanname , trait , alternate_id
8578397CV112778single nucleotide variantNM_001134381.1(TBC1D5):c.509+7813G>CLung cancer [RCV000093301]uncertain significance31739536817395368Humanname
405287452CV3210685single nucleotide variantNM_001349074.2(TBC1D5):c.97+29078G>CTBC1D5-related disorder [RCV003924447]likely benign31747939617479396Humanname , trait , alternate_id
156191771CV2289371single nucleotide variantNM_001349074.2(TBC1D5):c.49C>G (p.Gln17Glu)not specified [RCV004152337]uncertain significance31750852217508522Humanname
597761497CV3609593single nucleotide variantNM_001349074.2(TBC1D5):c.58G>C (p.Gly20Arg)not specified [RCV004869439]uncertain significance31750851317508513Humanname
401926262CV2827199single nucleotide variantNM_001349074.2(TBC1D5):c.283C>T (p.Leu95Phe)not provided [RCV003437722]likely benign31740495517404955Humanname
597761525CV3609599single nucleotide variantNM_001349074.2(TBC1D5):c.262A>C (p.Ser88Arg)not specified [RCV004869445]uncertain significance31740643217406432Humanname
597761537CV3609601single nucleotide variantNM_001349074.2(TBC1D5):c.133A>G (p.Thr45Ala)not specified [RCV004869447]uncertain significance31742848417428484Humanname
597761543CV3609602single nucleotide variantNM_001349074.2(TBC1D5):c.203A>G (p.Tyr68Cys)not specified [RCV004869448]uncertain significance31740649117406491Humanname
156382751CV2223619single nucleotide variantNM_001349074.2(TBC1D5):c.987A>G (p.Ile329Met)not specified [RCV004093756]uncertain significance31737208317372083Humanname
401725604CV2697480single nucleotide variantNM_001349074.2(TBC1D5):c.549A>C (p.Arg183Ser)not specified [RCV004297873]uncertain significance31738397617383976Humanname
401754059CV2719504single nucleotide variantNM_001349074.2(TBC1D5):c.392T>C (p.Val131Ala)not specified [RCV004326896]uncertain significance31740474317404743Humanname
401862221CV2766625single nucleotide variantNM_001349074.2(TBC1D5):c.484A>G (p.Met162Val)not specified [RCV004347235]uncertain significance31740320617403206Humanname
405790939CV3335269single nucleotide variantNM_001349074.2(TBC1D5):c.775G>C (p.Glu259Gln)not specified [RCV004474031]uncertain significance31737451817374518Humanname
405790936CV3335270single nucleotide variantNM_001349074.2(TBC1D5):c.818A>G (p.Gln273Arg)not specified [RCV004474032]uncertain significance31737447517374475Humanname
407512545CV3475553single nucleotide variantNM_001349074.2(TBC1D5):c.988T>C (p.Tyr330His)not specified [RCV004673469]uncertain significance31737208217372082Humanname
597761492CV3609592single nucleotide variantNM_001349074.2(TBC1D5):c.305A>G (p.Lys102Arg)not specified [RCV004869438]uncertain significance31740493317404933Humanname
597761502CV3609594single nucleotide variantNM_001349074.2(TBC1D5):c.955C>A (p.His319Asn)not specified [RCV004869440]uncertain significance31737211517372115Humanname
597761506CV3609595single nucleotide variantNM_001349074.2(TBC1D5):c.881C>T (p.Thr294Ile)not specified [RCV004869441]uncertain significance31737218917372189Humanname
597761548CV3609603single nucleotide variantNM_001349074.2(TBC1D5):c.937G>A (p.Asp313Asn)not specified [RCV004869449]uncertain significance31737213317372133Humanname
597761553CV3609604single nucleotide variantNM_001349074.2(TBC1D5):c.839T>G (p.Met280Arg)not specified [RCV004869450]uncertain significance31737223117372231Humanname
598196547CV3912876single nucleotide variantNM_001349074.2(TBC1D5):c.409A>T (p.Met137Leu)not specified [RCV005289448]uncertain significance31740472617404726Humanname
598196574CV3912881single nucleotide variantNM_001349074.2(TBC1D5):c.649C>T (p.Leu217Phe)not specified [RCV005289452]uncertain significance31737657717376577Humanname
598196580CV3912882single nucleotide variantNM_001349074.2(TBC1D5):c.689C>G (p.Ser230Cys)not specified [RCV005289453]uncertain significance31737653717376537Humanname
156166531CV2200921single nucleotide variantNM_001349074.2(TBC1D5):c.1880T>A (p.Met627Lys)not specified [RCV004081536]uncertain significance31718514717185147Humanname
155980180CV2222990single nucleotide variantNM_001349074.2(TBC1D5):c.1229T>C (p.Phe410Ser)not specified [RCV004103580]uncertain significance31729191117291911Humanname
156020703CV2226555single nucleotide variantNM_001349074.2(TBC1D5):c.1589G>A (p.Gly530Asp)not specified [RCV004101812]uncertain significance31723375017233750Humanname
156343577CV2232807single nucleotide variantNM_001349074.2(TBC1D5):c.1222G>A (p.Ala408Thr)not specified [RCV004101436]uncertain significance31729191817291918Humanname
156151497CV2245175single nucleotide variantNM_001349074.2(TBC1D5):c.1847T>C (p.Phe616Ser)not specified [RCV004106956]uncertain significance31718518017185180Humanname
156210443CV2259806single nucleotide variantNM_001349074.2(TBC1D5):c.1690G>A (p.Val564Ile)not specified [RCV004117075]likely benign31721433517214335Humanname
155902693CV2274742single nucleotide variantNM_001349074.2(TBC1D5):c.2203G>A (p.Asp735Asn)not specified [RCV004139103]uncertain significance31716121417161214Humanname
156268021CV2275592single nucleotide variantNM_001349074.2(TBC1D5):c.1635G>C (p.Gln545His)not specified [RCV004137226]uncertain significance31723370417233704Humanname
156171016CV2317181single nucleotide variantNM_001349074.2(TBC1D5):c.1517A>G (p.His506Arg)not specified [RCV004176543]uncertain significance31723823417238234Humanname
156038021CV2374122single nucleotide variantNM_001349074.2(TBC1D5):c.2117G>A (p.Arg706Gln)not specified [RCV004227233]uncertain significance31716681017166810Humanname
156081169CV2384721single nucleotide variantNM_001349074.2(TBC1D5):c.2404G>A (p.Asp802Asn)not specified [RCV004232489]uncertain significance31716101317161013Humanname
329361683CV2468203single nucleotide variantNM_001349074.2(TBC1D5):c.1573G>A (p.Val525Met)not specified [RCV004275784]uncertain significance31723817817238178Humanname
401770741CV2707383single nucleotide variantNM_001349074.2(TBC1D5):c.1165C>G (p.Leu389Val)not specified [RCV004312774]uncertain significance31729197517291975Humanname
401871421CV2763718single nucleotide variantNM_001349074.2(TBC1D5):c.2067G>C (p.Gln689His)not specified [RCV004343213]uncertain significance31716686017166860Humanname
405280870CV3190640single nucleotide variantNM_001349074.2(TBC1D5):c.2078C>A (p.Ala693Glu)TBC1D5-related disorder [RCV003907078]likely benign31716684917166849Humanname , trait , alternate_id
405272858CV3216843single nucleotide variantNM_001349074.2(TBC1D5):c.1918G>C (p.Val640Leu)TBC1D5-related disorder [RCV003972325]likely benign31718510917185109Humanname , trait , alternate_id
405790956CV3335263single nucleotide variantNM_001349074.2(TBC1D5):c.1007G>A (p.Arg336Gln)not specified [RCV004474025]uncertain significance31730812317308123Humanname
405790951CV3335265single nucleotide variantNM_001349074.2(TBC1D5):c.1717T>A (p.Phe573Ile)not specified [RCV004474027]uncertain significance31721430817214308Humanname
405790948CV3335266single nucleotide variantNM_001349074.2(TBC1D5):c.1913A>G (p.His638Arg)not specified [RCV004474028]uncertain significance31718511417185114Humanname
405790945CV3335267single nucleotide variantNM_001349074.2(TBC1D5):c.1961A>G (p.Glu654Gly)not specified [RCV004474029]uncertain significance31716778617167786Humanname
405790942CV3335268single nucleotide variantNM_001349074.2(TBC1D5):c.2053G>A (p.Glu685Lys)not specified [RCV004474030]uncertain significance31716687417166874Humanname
407512540CV3475551single nucleotide variantNM_001349074.2(TBC1D5):c.2117G>C (p.Arg706Pro)not specified [RCV004673467]uncertain significance31716681017166810Humanname
407512543CV3475552single nucleotide variantNM_001349074.2(TBC1D5):c.2027G>A (p.Arg676His)not specified [RCV004673468]uncertain significance31716690017166900Humanname
407530652CV3475554single nucleotide variantNM_001349074.2(TBC1D5):c.2434G>T (p.Val812Leu)not specified [RCV004682018]uncertain significance31716098317160983Humanname
407512549CV3475555single nucleotide variantNM_001349074.2(TBC1D5):c.1145C>G (p.Ser382Cys)not specified [RCV004673470]uncertain significance31729199517291995Humanname
407512552CV3475556single nucleotide variantNM_001349074.2(TBC1D5):c.2161G>C (p.Ala721Pro)not specified [RCV004673471]uncertain significance31716125617161256Humanname
407530654CV3475557single nucleotide variantNM_001349074.2(TBC1D5):c.1661G>A (p.Ser554Asn)not specified [RCV004682019]uncertain significance31721436417214364Humanname
407512555CV3475558single nucleotide variantNM_001349074.2(TBC1D5):c.2401G>A (p.Asp801Asn)not specified [RCV004673472]uncertain significance31716101617161016Humanname
597761473CV3609588single nucleotide variantNM_001349074.2(TBC1D5):c.1827A>T (p.Glu609Asp)not specified [RCV004869434]uncertain significance31718520017185200Humanname
597761478CV3609589single nucleotide variantNM_001349074.2(TBC1D5):c.1591G>A (p.Asp531Asn)not specified [RCV004869435]uncertain significance31723374817233748Humanname
597761483CV3609590single nucleotide variantNM_001349074.2(TBC1D5):c.1063T>G (p.Leu355Val)not specified [RCV004869436]uncertain significance31730806717308067Humanname
597761487CV3609591single nucleotide variantNM_001349074.2(TBC1D5):c.2123A>G (p.Gln708Arg)not specified [RCV004869437]uncertain significance31716680417166804Humanname
597761515CV3609597single nucleotide variantNM_001349074.2(TBC1D5):c.2050G>A (p.Ala684Thr)not specified [RCV004869443]uncertain significance31716687717166877Humanname
597761520CV3609598single nucleotide variantNM_001349074.2(TBC1D5):c.1250A>G (p.Asn417Ser)not specified [RCV004869444]uncertain significance31725858717258587Humanname
597761530CV3609600single nucleotide variantNM_001349074.2(TBC1D5):c.2066A>G (p.Gln689Arg)not specified [RCV004869446]uncertain significance31716686117166861Humanname
597761557CV3609605single nucleotide variantNM_001349074.2(TBC1D5):c.1997A>C (p.Gln666Pro)not specified [RCV004869451]uncertain significance31716775017167750Humanname
598196553CV3912877single nucleotide variantNM_001349074.2(TBC1D5):c.2101G>A (p.Gly701Ser)not specified [RCV005289449]uncertain significance31716682617166826Humanname
598163061CV3912878single nucleotide variantNM_001349074.2(TBC1D5):c.2281C>T (p.Arg761Cys)not specified [RCV005283049]uncertain significance31716113617161136Humanname
598196559CV3912879single nucleotide variantNM_001349074.2(TBC1D5):c.1939T>G (p.Leu647Val)not specified [RCV005289450]uncertain significance31716780817167808Humanname
598196566CV3912880single nucleotide variantNM_001349074.2(TBC1D5):c.1075G>A (p.Gly359Ser)not specified [RCV005289451]uncertain significance31730805517308055Humanname
598163068CV3912883single nucleotide variantNM_001349074.2(TBC1D5):c.1304G>A (p.Arg435Gln)not specified [RCV005283050]uncertain significance31725853317258533Humanname
598196585CV3912884single nucleotide variantNM_001349074.2(TBC1D5):c.2142G>A (p.Met714Ile)not specified [RCV005289454]uncertain significance31716678517166785Humanname
598196591CV3912885single nucleotide variantNM_001349074.2(TBC1D5):c.1196G>A (p.Gly399Glu)not specified [RCV005289455]uncertain significance31729194417291944Humanname