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69 records found for search term Sh3bp5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15195987CV777373single nucleotide variantNM_004844.5(SH3BP5):c.1151-3T>Cnot provided [RCV000956074]benign31525630615256306Humanname
15195755CV759382deletionNM_004844.5(SH3BP5):c.1151-40_1164delnot provided [RCV000911504]likely benign31525629015256343Humanname
156002098CV2257923single nucleotide variantNM_004844.5(SH3BP5):c.59C>T (p.Ala20Val)not specified [RCV004129742]uncertain significance31533235015332350Humanname
156220948CV2345100single nucleotide variantNM_004844.5(SH3BP5):c.41C>T (p.Ala14Val)not specified [RCV004193373]uncertain significance31533236815332368Humanname
598198921CV3917785single nucleotide variantNM_004844.5(SH3BP5):c.37C>G (p.Pro13Ala)not specified [RCV005268323]uncertain significance31533237215332372Humanname
155971034CV2335644single nucleotide variantNM_004844.5(SH3BP5):c.191C>T (p.Thr64Ile)not specified [RCV004193846]uncertain significance31533051415330514Humanname
401865668CV2755589single nucleotide variantNM_004844.5(SH3BP5):c.209G>A (p.Arg70His)not specified [RCV004340162]uncertain significance31530422415304224Humanname
405270265CV3187666deletionNM_004844.5(SH3BP5):c.932del (p.Val311fs)not provided [RCV003887750]uncertain significance31525707115257071Humanname
405708465CV3317976single nucleotide variantNM_004844.5(SH3BP5):c.262G>A (p.Val88Met)not specified [RCV004448140]uncertain significance31530417115304171Humanname
155986806CV2234033single nucleotide variantNM_004844.5(SH3BP5):c.974G>A (p.Ser325Asn)not specified [RCV004106148]uncertain significance31525702915257029Humanname
156031747CV2239219single nucleotide variantNM_004844.5(SH3BP5):c.688G>A (p.Asp230Asn)not specified [RCV004112196]uncertain significance31525903215259032Humanname
156025210CV2273951single nucleotide variantNM_004844.5(SH3BP5):c.695T>G (p.Leu232Arg)not specified [RCV004134354]uncertain significance31525902515259025Humanname
155905352CV2285961single nucleotide variantNM_004844.5(SH3BP5):c.644A>C (p.Lys215Thr)not specified [RCV004143879]uncertain significance31525978615259786Humanname
156182331CV2327891single nucleotide variantNM_004844.5(SH3BP5):c.563A>G (p.Asn188Ser)not specified [RCV004179216]uncertain significance31526222215262222Humanname
156152260CV2394841single nucleotide variantNM_004844.5(SH3BP5):c.445C>T (p.Arg149Trp)not specified [RCV004234503]uncertain significance31526976315269763Humanname
329399976CV2444473single nucleotide variantNM_004844.5(SH3BP5):c.319G>A (p.Val107Met)not specified [RCV004263204]uncertain significance31530411415304114Humanname
401772612CV2687753single nucleotide variantNM_004844.5(SH3BP5):c.578G>A (p.Arg193His)not specified [RCV004302739]uncertain significance31526220715262207Humanname
401718617CV2704702single nucleotide variantNM_004844.5(SH3BP5):c.314G>A (p.Arg105Gln)not specified [RCV004307308]uncertain significance31530411915304119Humanname
401718621CV2704704single nucleotide variantNM_004844.5(SH3BP5):c.589C>G (p.Leu197Val)not specified [RCV004307310]uncertain significance31526219615262196Humanname
405708474CV3317977single nucleotide variantNM_004844.5(SH3BP5):c.472A>C (p.Met158Leu)not specified [RCV004448141]uncertain significance31526973615269736Humanname
405708481CV3317978single nucleotide variantNM_004844.5(SH3BP5):c.536T>C (p.Val179Ala)not specified [RCV004448142]uncertain significance31526224915262249Humanname
405708491CV3317979single nucleotide variantNM_004844.5(SH3BP5):c.618C>G (p.Asn206Lys)not specified [RCV004448143]uncertain significance31526216715262167Humanname
405708670CV3317980single nucleotide variantNM_004844.5(SH3BP5):c.922A>G (p.Ser308Gly)not specified [RCV004448144]uncertain significance31525708115257081Humanname
405708676CV3317981single nucleotide variantNM_004844.5(SH3BP5):c.956A>G (p.Gln319Arg)not specified [RCV004448145]uncertain significance31525704715257047Humanname
407490488CV3484221single nucleotide variantNM_004844.5(SH3BP5):c.782G>A (p.Arg261Gln)not specified [RCV004666328]uncertain significance31525893815258938Humanname
407492943CV3484222single nucleotide variantNM_004844.5(SH3BP5):c.446G>A (p.Arg149Gln)not specified [RCV004667262]uncertain significance31526976215269762Humanname
407492950CV3484223single nucleotide variantNM_004844.5(SH3BP5):c.755T>C (p.Met252Thr)not specified [RCV004667263]uncertain significance31525896515258965Humanname
407490491CV3484224single nucleotide variantNM_004844.5(SH3BP5):c.681G>C (p.Lys227Asn)not specified [RCV004666329]uncertain significance31525903915259039Humanname
597696118CV3606075single nucleotide variantNM_004844.5(SH3BP5):c.823G>A (p.Ala275Thr)not specified [RCV004859369]uncertain significance31525889715258897Humanname
597696125CV3606076single nucleotide variantNM_004844.5(SH3BP5):c.724G>A (p.Glu242Lys)not specified [RCV004859370]uncertain significance31525899615258996Humanname
597696135CV3606077single nucleotide variantNM_004844.5(SH3BP5):c.878A>C (p.Asp293Ala)not specified [RCV004859371]uncertain significance31525884215258842Humanname
598240168CV3917782single nucleotide variantNM_004844.5(SH3BP5):c.926A>C (p.Asn309Thr)not specified [RCV005276148]uncertain significance31525707715257077Humanname
598240178CV3917784single nucleotide variantNM_004844.5(SH3BP5):c.431T>C (p.Leu144Pro)not specified [RCV005276150]uncertain significance31526977715269777Humanname
598240183CV3917786single nucleotide variantNM_004844.5(SH3BP5):c.763G>C (p.Asp255His)not specified [RCV005276151]uncertain significance31525895715258957Humanname
156113281CV2349107single nucleotide variantNM_004844.5(SH3BP5):c.1280T>G (p.Leu427Trp)not specified [RCV004205952]uncertain significance31525617415256174Humanname
329368593CV2428073single nucleotide variantNM_004844.5(SH3BP5):c.1208G>C (p.Gly403Ala)not specified [RCV004254448]uncertain significance31525624615256246Humanname
329379638CV2456370single nucleotide variantNM_004844.5(SH3BP5):c.1325G>A (p.Arg442Lys)not specified [RCV004275532]uncertain significance31525612915256129Humanname
405708455CV3317974single nucleotide variantNM_004844.5(SH3BP5):c.1181C>G (p.Thr394Arg)not specified [RCV004448138]uncertain significance31525627315256273Humanname
405708462CV3317975single nucleotide variantNM_004844.5(SH3BP5):c.1201A>C (p.Asn401His)not specified [RCV004448139]uncertain significance31525625315256253Humanname
407490485CV3484220single nucleotide variantNM_004844.5(SH3BP5):c.1289G>A (p.Arg430Gln)not specified [RCV004666327]uncertain significance31525616515256165Humanname
597696145CV3606078single nucleotide variantNM_004844.5(SH3BP5):c.1241G>C (p.Ser414Thr)not specified [RCV004859372]uncertain significance31525621315256213Humanname
598240172CV3917783single nucleotide variantNM_004844.5(SH3BP5):c.1148G>A (p.Arg383Gln)not specified [RCV005276149]uncertain significance31525685515256855Humanname
156078144CV2248261single nucleotide variantNM_030645.3(SH3BP5L):c.122G>A (p.Ser41Asn)not specified [RCV004119431]uncertain significance1248824814248824814Humanname
156258873CV2383870single nucleotide variantNM_030645.3(SH3BP5L):c.105G>T (p.Glu35Asp)not specified [RCV004231731]uncertain significance1248824831248824831Humanname
329401625CV2457233single nucleotide variantNM_030645.3(SH3BP5L):c.149C>T (p.Pro50Leu)not specified [RCV004265303]uncertain significance1248824787248824787Humanname
407490494CV3484226single nucleotide variantNM_030645.3(SH3BP5L):c.287C>T (p.Ala96Val)not specified [RCV004666330]uncertain significance1248816622248816622Humanname
598240214CV3917792single nucleotide variantNM_030645.3(SH3BP5L):c.266G>A (p.Arg89Gln)not specified [RCV005276156]uncertain significance1248816643248816643Humanname
156361940CV2265444single nucleotide variantNM_030645.3(SH3BP5L):c.415C>T (p.Arg139Trp)not specified [RCV004130471]uncertain significance1248814571248814571Humanname
155925683CV2277343single nucleotide variantNM_030645.3(SH3BP5L):c.595C>T (p.Arg199Trp)not specified [RCV004144768]uncertain significance1248813105248813105Humanname
156090120CV2344613single nucleotide variantNM_030645.3(SH3BP5L):c.928G>A (p.Gly310Arg)not specified [RCV004197385]uncertain significance1248812154248812154Humanname
155922755CV2347375single nucleotide variantNM_030645.3(SH3BP5L):c.854G>A (p.Gly285Asp)not specified [RCV004207215]uncertain significance1248812228248812228Humanname
329399288CV2436569single nucleotide variantNM_030645.3(SH3BP5L):c.560G>A (p.Arg187Gln)not specified [RCV004253724]uncertain significance1248813140248813140Humanname
401761403CV2702322single nucleotide variantNM_030645.3(SH3BP5L):c.820C>G (p.Arg274Gly)not specified [RCV004316854]uncertain significance1248812262248812262Humanname
401782394CV2719795single nucleotide variantNM_030645.3(SH3BP5L):c.746A>G (p.Gln249Arg)not specified [RCV004329220]uncertain significance1248812336248812336Humanname
401866722CV2776616single nucleotide variantNM_030645.3(SH3BP5L):c.472G>A (p.Val158Ile)not specified [RCV004357491]uncertain significance1248814514248814514Humanname
401877235CV2790097single nucleotide variantNM_030645.3(SH3BP5L):c.427A>C (p.Met143Leu)not specified [RCV004364043]uncertain significance1248814559248814559Humanname
405708697CV3317984single nucleotide variantNM_030645.3(SH3BP5L):c.436G>A (p.Ala146Thr)not specified [RCV004448148]uncertain significance1248814550248814550Humanname
405708705CV3317985single nucleotide variantNM_030645.3(SH3BP5L):c.647G>A (p.Arg216Gln)not specified [RCV004448149]uncertain significance1248813053248813053Humanname
407490497CV3484227single nucleotide variantNM_030645.3(SH3BP5L):c.523C>T (p.His175Tyr)not specified [RCV004666331]uncertain significance1248814463248814463Humanname
598240190CV3917787single nucleotide variantNM_030645.3(SH3BP5L):c.767G>A (p.Arg256His)not specified [RCV005276152]uncertain significance1248812315248812315Humanname
598240202CV3917789single nucleotide variantNM_030645.3(SH3BP5L):c.574C>G (p.Arg192Gly)not specified [RCV005276154]uncertain significance1248813126248813126Humanname
598240208CV3917790single nucleotide variantNM_030645.3(SH3BP5L):c.844C>T (p.His282Tyr)not specified [RCV005276155]uncertain significance1248812238248812238Humanname
598198930CV3917791single nucleotide variantNM_030645.3(SH3BP5L):c.836T>C (p.Leu279Pro)not specified [RCV005268324]uncertain significance1248812246248812246Humanname
156255288CV2325733single nucleotide variantNM_030645.3(SH3BP5L):c.1021G>A (p.Val341Met)not specified [RCV004173628]uncertain significance1248812061248812061Humanname
401863550CV2776975single nucleotide variantNM_030645.3(SH3BP5L):c.1141G>A (p.Gly381Arg)not specified [RCV004351785]uncertain significance1248811941248811941Humanname
401892812CV2791810single nucleotide variantNM_030645.3(SH3BP5L):c.1123C>A (p.Arg375Ser)not specified [RCV004359263]uncertain significance1248811959248811959Humanname
405708682CV3317982single nucleotide variantNM_030645.3(SH3BP5L):c.1025C>T (p.Ala342Val)not specified [RCV004448146]uncertain significance1248812057248812057Humanname
405708690CV3317983single nucleotide variantNM_030645.3(SH3BP5L):c.1086T>A (p.Ser362Arg)not specified [RCV004448147]uncertain significance1248811996248811996Humanname
407492954CV3484225single nucleotide variantNM_030645.3(SH3BP5L):c.1111C>T (p.Arg371Trp)not specified [RCV004667264]uncertain significance1248811971248811971Humanname