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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


44 records found for search term Sod3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15196403CV698483single nucleotide variantNM_003102.4(SOD3):c.9G>C (p.Ala3=)not provided [RCV000956183]benign42479953024799530Humanname
15179998CV720934single nucleotide variantNM_003102.4(SOD3):c.93G>A (p.Ser31=)not provided [RCV000885421]benign42479961424799614Humanname
405290629CV3200926single nucleotide variantNM_003102.4(SOD3):c.211C>T (p.Leu71=)SOD3-related disorder [RCV003984590]benign42479973224799732Humanname , trait , alternate_id
597741370CV3603575single nucleotide variantNM_003102.4(SOD3):c.11T>C (p.Leu4Pro)not specified [RCV004864852]uncertain significance42479953224799532Humanname
15185759CV720935single nucleotide variantNM_003102.4(SOD3):c.117C>T (p.Tyr39=)SOD3-related disorder [RCV003930677]|not provided [RCV000886785]likely benign42479963824799638Humanname , trait , alternate_id
401754082CV2715533single nucleotide variantNM_003102.4(SOD3):c.59C>T (p.Thr20Met)not specified [RCV004326934]uncertain significance42479958024799580Humanname
401857935CV2774115single nucleotide variantNM_003102.4(SOD3):c.51C>A (p.Asp17Glu)not specified [RCV004345708]uncertain significance42479957224799572Humanname
401864477CV2781778single nucleotide variantNM_003102.4(SOD3):c.32T>A (p.Leu11Gln)not specified [RCV004356741]uncertain significance42479955324799553Humanname
405276345CV3206661single nucleotide variantNM_003102.4(SOD3):c.83A>G (p.Asn28Ser)SOD3-related disorder [RCV003917102]likely benign42479960424799604Humanname , trait , alternate_id
405294338CV3214820single nucleotide variantNM_003102.4(SOD3):c.603G>A (p.Ala201=)SOD3-related disorder [RCV003934234]|not provided [RCV004810620]likely benign42480012424800124Humanname , trait , alternate_id
407504305CV3484944single nucleotide variantNM_003102.4(SOD3):c.94G>A (p.Ala32Thr)not specified [RCV004670489]uncertain significance42479961524799615Humanname
155901813CV2237796single nucleotide variantNM_003102.4(SOD3):c.166G>A (p.Asp56Asn)not specified [RCV004109040]uncertain significance42479968724799687Humanname
155996030CV2398488single nucleotide variantNM_003102.4(SOD3):c.169G>C (p.Gly57Arg)not specified [RCV004237811]uncertain significance42479969024799690Humanname
329402680CV2451224single nucleotide variantNM_003102.4(SOD3):c.265C>A (p.Pro89Thr)not specified [RCV004270138]uncertain significance42479978624799786Humanname
329396037CV2463194single nucleotide variantNM_003102.4(SOD3):c.158G>C (p.Arg53Pro)not specified [RCV004274974]uncertain significance42479967924799679Humanname
401737373CV2679296single nucleotide variantNM_003102.4(SOD3):c.143A>T (p.Glu48Val)not specified [RCV004285840]uncertain significance42479966424799664Humanname
401737377CV2679297single nucleotide variantNM_003102.4(SOD3):c.144G>C (p.Glu48Asp)not specified [RCV004285841]uncertain significance42479966524799665Humanname
405288285CV3197250single nucleotide variantNM_003102.4(SOD3):c.172G>A (p.Ala58Thr)SOD3-related disorder [RCV003982346]benign42479969324799693Human2name , trait , alternate_id
407504308CV3484945single nucleotide variantNM_003102.4(SOD3):c.263C>G (p.Ala88Gly)not specified [RCV004670490]uncertain significance42479978424799784Humanname
597755761CV3603574single nucleotide variantNM_003102.4(SOD3):c.262G>A (p.Ala88Thr)not specified [RCV004868257]uncertain significance42479978324799783Humanname
597755765CV3603576single nucleotide variantNM_003102.4(SOD3):c.239G>C (p.Gly80Ala)not specified [RCV004868258]uncertain significance42479976024799760Humanname
598246125CV3911848single nucleotide variantNM_003102.4(SOD3):c.202T>C (p.Ser68Pro)not specified [RCV005277094]uncertain significance42479972324799723Humanname
15153879CV720936single nucleotide variantNM_003102.4(SOD3):c.271G>A (p.Ala91Thr)SOD3-related disorder [RCV003930497]|not provided [RCV000880100]benign42479979224799792Humanname , trait , alternate_id
156042851CV2215803single nucleotide variantNM_003102.4(SOD3):c.536T>G (p.Val179Gly)not specified [RCV004096923]uncertain significance42480005724800057Humanname
156157982CV2314497single nucleotide variantNM_003102.4(SOD3):c.476A>G (p.Tyr159Cys)not specified [RCV004168597]uncertain significance42479999724799997Humanname
156330081CV2339424single nucleotide variantNM_003102.4(SOD3):c.482C>T (p.Ala161Val)not specified [RCV004194096]uncertain significance42480000324800003Humanname
155924036CV2351986single nucleotide variantNM_003102.4(SOD3):c.566G>T (p.Arg189Leu)not specified [RCV004191087]uncertain significance42480008724800087Humanname
155929930CV2369954single nucleotide variantNM_003102.4(SOD3):c.600C>A (p.Asn200Lys)not specified [RCV004208419]uncertain significance42480012124800121Humanname
156346201CV2377950single nucleotide variantNM_003102.4(SOD3):c.366C>A (p.Ser122Arg)not specified [RCV004230515]uncertain significance42479988724799887Humanname
329392039CV2470317single nucleotide variantNM_003102.4(SOD3):c.502G>A (p.Ala168Thr)not specified [RCV004279711]uncertain significance42480002324800023Humanname
401771236CV2700949single nucleotide variantNM_003102.4(SOD3):c.589G>A (p.Glu197Lys)not specified [RCV004307210]uncertain significance42480011024800110Humanname
401778109CV2718490single nucleotide variantNM_003102.4(SOD3):c.509C>A (p.Pro170Gln)not specified [RCV004318299]uncertain significance42480003024800030Humanname
401886160CV2771644single nucleotide variantNM_003102.4(SOD3):c.356G>C (p.Gly119Ala)not specified [RCV004350445]uncertain significance42479987724799877Humanname
8563314CV27816single nucleotide variantNM_003102.4(SOD3):c.691C>G (p.Arg231Gly)SOD3-related disorder [RCV003924831]|Superoxide dismutase, elevated extracellular [RCV000013615]pathogenic|benign|likely benign42480021224800212Human4name , trait , alternate_id
8563314CV27816single nucleotide variantNM_003102.4(SOD3):c.691C>G (p.Arg231Gly)SOD3-related disorder [RCV003924831]|Superoxide dismutase, elevated extracellular [RCV000013615]pathogenic|benign|likely benign42480021224800213Human4name , trait , alternate_id
401881735CV2783939single nucleotide variantNM_003102.4(SOD3):c.401C>T (p.Pro134Leu)not specified [RCV004362361]uncertain significance42479992224799922Humanname
405283891CV3200364single nucleotide variantNM_003102.4(SOD3):c.524G>A (p.Gly175Asp)SOD3-related disorder [RCV003979408]likely benign42480004524800045Humanname , trait , alternate_id
405734850CV3322849single nucleotide variantNM_003102.4(SOD3):c.313G>C (p.Glu105Gln)not specified [RCV004464811]likely benign42479983424799834Humanname
405734858CV3322850single nucleotide variantNM_003102.4(SOD3):c.449C>T (p.Ala150Val)not specified [RCV004464812]uncertain significance42479997024799970Humanname
405734867CV3322851single nucleotide variantNM_003102.4(SOD3):c.550G>A (p.Glu184Lys)not specified [RCV004464813]uncertain significance42480007124800071Humanname
405734881CV3322853single nucleotide variantNM_003102.4(SOD3):c.659G>T (p.Arg220Leu)not specified [RCV004464815]uncertain significance42480018024800180Humanname
407504301CV3484943single nucleotide variantNM_003102.4(SOD3):c.706G>C (p.Glu236Gln)not specified [RCV004670488]uncertain significance42480022724800227Humanname
598246132CV3911849single nucleotide variantNM_003102.4(SOD3):c.529G>A (p.Ala177Thr)not specified [RCV005277095]uncertain significance42480005024800050Humanname
598246141CV3911850single nucleotide variantNM_003102.4(SOD3):c.683G>T (p.Arg228Leu)not specified [RCV005277096]uncertain significance42480020424800204Humanname