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46 records found for search term Tomm40
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155915741CV2339197single nucleotide variantNM_001128917.2(TOMM40):c.71G>A (p.Gly24Glu)not specified [RCV004191442]uncertain significance194489148644891486Humanname
405757167CV3346902single nucleotide variantNM_001128917.2(TOMM40):c.844C>T (p.Leu282=)not specified [RCV004468002]likely benign194490120844901208Humanname
597786646CV3614327single nucleotide variantNM_001128917.2(TOMM40):c.85C>G (p.Pro29Ala)not specified [RCV004875397]uncertain significance194489150044891500Humanname
15136417CV716516single nucleotide variantNM_001128917.2(TOMM40):c.657C>T (p.Ala219=)not provided [RCV000965451]benign194490074344900743Humanname
156120798CV2233789single nucleotide variantNM_001128917.2(TOMM40):c.128G>C (p.Ser43Thr)not specified [RCV004100223]uncertain significance194489154344891543Humanname
156002473CV2288040single nucleotide variantNM_001128917.2(TOMM40):c.193G>C (p.Ala65Pro)not specified [RCV004147796]uncertain significance194489160844891608Humanname
401888917CV2765069single nucleotide variantNM_001128917.2(TOMM40):c.193G>T (p.Ala65Ser)not specified [RCV004337186]uncertain significance194489160844891608Humanname
401859291CV2771516single nucleotide variantNM_001128917.2(TOMM40):c.227G>A (p.Cys76Tyr)not specified [RCV004348548]uncertain significance194489164244891642Humanname
405757153CV3346900single nucleotide variantNM_001128917.2(TOMM40):c.224G>T (p.Gly75Val)not specified [RCV004468000]uncertain significance194489163944891639Humanname
407531587CV3486735single nucleotide variantNM_001128917.2(TOMM40):c.172C>T (p.Pro58Ser)not specified [RCV004682570]uncertain significance194489158744891587Humanname
407531590CV3486736single nucleotide variantNM_001128917.2(TOMM40):c.287T>A (p.Ile96Asn)not specified [RCV004682571]uncertain significance194489240544892405Humanname
597786641CV3614326single nucleotide variantNM_001128917.2(TOMM40):c.145A>G (p.Ser49Gly)not specified [RCV004875396]likely benign194489156044891560Humanname
598254394CV3928036single nucleotide variantNM_001128917.2(TOMM40):c.113C>T (p.Pro38Leu)not specified [RCV005278441]uncertain significance194489152844891528Humanname
598187916CV3928038single nucleotide variantNM_001128917.2(TOMM40):c.149C>A (p.Thr50Lys)not specified [RCV005287856]uncertain significance194489156444891564Humanname
15189904CV705095single nucleotide variantNM_001128917.2(TOMM40):c.147T>G (p.Ser49Arg)not provided [RCV000954317]benign194489156244891562Humanname
15121399CV741976single nucleotide variantNM_001128917.2(TOMM40):c.276G>C (p.Glu92Asp)not provided [RCV000896059]likely benign194489239444892394Humanname
156187354CV2195766single nucleotide variantNM_001128917.2(TOMM40):c.383A>G (p.Asn128Ser)not specified [RCV004076119]uncertain significance194489287744892877Humanname
155919676CV2202703single nucleotide variantNM_001128917.2(TOMM40):c.437C>T (p.Ala146Val)not specified [RCV004082949]uncertain significance194489378144893781Humanname
156088353CV2259043single nucleotide variantNM_001128917.2(TOMM40):c.410G>A (p.Gly137Glu)not specified [RCV004120307]uncertain significance194489290444892904Humanname
156140773CV2260373single nucleotide variantNM_001128917.2(TOMM40):c.904G>A (p.Gly302Arg)not specified [RCV004129448]uncertain significance194490126844901268Humanname
156338280CV2271249single nucleotide variantNM_001128917.2(TOMM40):c.748C>G (p.Leu250Val)not specified [RCV004136395]uncertain significance194490083444900834Humanname
156049291CV2304491single nucleotide variantNM_001128917.2(TOMM40):c.959G>A (p.Ser320Asn)not specified [RCV004164577]uncertain significance194490304244903042Humanname
156076393CV2375035single nucleotide variantNM_001128917.2(TOMM40):c.607G>A (p.Val203Ile)not specified [RCV004230086]uncertain significance194489403044894030Humanname
156389697CV2380748single nucleotide variantNM_001128917.2(TOMM40):c.980C>T (p.Thr327Met)not specified [RCV004218316]uncertain significance194490306344903063Humanname
401741410CV2680401single nucleotide variantNM_001128917.2(TOMM40):c.652G>A (p.Val218Ile)not specified [RCV004288646]uncertain significance194490073844900738Humanname
401856484CV2764816single nucleotide variantNM_001128917.2(TOMM40):c.634G>A (p.Val212Met)not specified [RCV004334919]uncertain significance194489405744894057Humanname
405757160CV3346901single nucleotide variantNM_001128917.2(TOMM40):c.370A>G (p.Ile124Val)not specified [RCV004468001]uncertain significance194489286444892864Humanname
407531592CV3486737single nucleotide variantNM_001128917.2(TOMM40):c.430A>G (p.Thr144Ala)not specified [RCV004682572]uncertain significance194489292444892924Humanname
597786637CV3614325single nucleotide variantNM_001128917.2(TOMM40):c.628G>A (p.Val210Ile)not specified [RCV004875395]uncertain significance194489405144894051Humanname
597786650CV3614328single nucleotide variantNM_001128917.2(TOMM40):c.808A>C (p.Met270Leu)not specified [RCV004875398]uncertain significance194490106944901069Humanname
598187912CV3928037single nucleotide variantNM_001128917.2(TOMM40):c.508C>T (p.Pro170Ser)not specified [RCV005287855]uncertain significance194489385244893852Humanname
405274037CV3211518single nucleotide variantNM_032174.6(TOMM40L):c.*695C>ATOMM40L-related disorder [RCV003951358]likely benign1161229790161229790Humanname , trait , alternate_id
407531594CV3486738single nucleotide variantNM_032174.6(TOMM40L):c.5G>T (p.Gly2Val)not specified [RCV004682573]uncertain significance1161226494161226494Humanname
597786655CV3614329single nucleotide variantNM_032174.6(TOMM40L):c.66A>T (p.Glu22Asp)not specified [RCV004875399]uncertain significance1161226555161226555Humanname
156043613CV2342328single nucleotide variantNM_032174.6(TOMM40L):c.253G>A (p.Asp85Asn)not specified [RCV004191895]uncertain significance1161227327161227327Humanname
156006379CV2357768single nucleotide variantNM_032174.6(TOMM40L):c.181C>A (p.Gln61Lys)not specified [RCV004205060]uncertain significance1161226953161226953Humanname
155916698CV2197553single nucleotide variantNM_032174.6(TOMM40L):c.919G>A (p.Val307Met)not specified [RCV004081274]uncertain significance1161229087161229087Humanname
155994931CV2286471single nucleotide variantNM_032174.6(TOMM40L):c.336G>C (p.Leu112Phe)not specified [RCV004139978]uncertain significance1161227695161227695Humanname
156249163CV2358829single nucleotide variantNM_032174.6(TOMM40L):c.887G>A (p.Arg296His)not specified [RCV004212177]uncertain significance1161229055161229055Humanname
329353433CV2469271single nucleotide variantNM_032174.6(TOMM40L):c.524G>A (p.Arg175Gln)not specified [RCV004280609]uncertain significance1161228225161228225Humanname
401747893CV2698873single nucleotide variantNM_032174.6(TOMM40L):c.473T>C (p.Ile158Thr)not specified [RCV004301638]uncertain significance1161227978161227978Humanname
401777794CV2704355single nucleotide variantNM_032174.6(TOMM40L):c.805T>C (p.Trp269Arg)not specified [RCV004311330]uncertain significance1161228973161228973Humanname
401776178CV2706916single nucleotide variantNM_032174.6(TOMM40L):c.304G>A (p.Asp102Asn)not specified [RCV004321529]uncertain significance1161227663161227663Humanname
401863071CV2765895single nucleotide variantNM_032174.6(TOMM40L):c.785G>C (p.Arg262Thr)not specified [RCV004337927]uncertain significance1161228815161228815Humanname
405757173CV3346903single nucleotide variantNM_032174.6(TOMM40L):c.325G>A (p.Ala109Thr)not specified [RCV004468003]uncertain significance1161227684161227684Humanname
407461091CV3486739single nucleotide variantNM_032174.6(TOMM40L):c.731C>A (p.Thr244Lys)not specified [RCV004687566]uncertain significance1161228761161228761Humanname