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103 records found for search term Psmb1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
407531672CV3471869single nucleotide variantNM_002793.4(PSMB1):c.68C>T (p.Ala23Val)not specified [RCV004657726]uncertain significance6170553175170553175Humanname
598170622CV3898167single nucleotide variantNM_002793.4(PSMB1):c.63A>C (p.Arg21Ser)not specified [RCV005263148]likely benign6170553180170553180Humanname
156137292CV2210394single nucleotide variantNM_002793.4(PSMB1):c.127A>G (p.Ile43Val)not specified [RCV004089543]uncertain significance6170549100170549100Humanname
155970256CV2213453single nucleotide variantNM_002793.4(PSMB1):c.194C>T (p.Thr65Met)not specified [RCV004087427]uncertain significance6170549033170549033Humanname
156095408CV2253028single nucleotide variantNM_002793.4(PSMB1):c.218A>G (p.Lys73Arg)not specified [RCV004120823]uncertain significance6170549009170549009Humanname
156086951CV2258946single nucleotide variantNM_002793.4(PSMB1):c.191A>G (p.His64Arg)not specified [RCV004120226]uncertain significance6170549036170549036Humanname
156261175CV2381305single nucleotide variantNM_002793.4(PSMB1):c.115A>G (p.Thr39Ala)not specified [RCV004227365]uncertain significance6170549112170549112Humanname
407531668CV3471867single nucleotide variantNM_002793.4(PSMB1):c.200A>T (p.Asp67Val)not specified [RCV004657724]uncertain significance6170549027170549027Humanname
407531674CV3471870single nucleotide variantNM_002793.4(PSMB1):c.146C>G (p.Ala49Gly)not specified [RCV004657727]uncertain significance6170549081170549081Humanname
155268571CV1704176single nucleotide variantNM_002793.4(PSMB1):c.307T>C (p.Tyr103His)Neurodevelopmental disorder with microcephaly, hypotonia, and absent language [RCV002284163]pathogenic6170543727170543727Human1name
156334900CV2214834single nucleotide variantNM_002793.4(PSMB1):c.451A>G (p.Ser151Gly)not specified [RCV004090627]uncertain significance6170537323170537323Humanname
156077643CV2230299single nucleotide variantNM_002793.4(PSMB1):c.308A>G (p.Tyr103Cys)not specified [RCV004099910]uncertain significance6170543726170543726Humanname
401889595CV2756526single nucleotide variantNM_002793.4(PSMB1):c.341G>C (p.Gly114Ala)not specified [RCV004345055]uncertain significance6170543693170543693Humanname
597749774CV3592000single nucleotide variantNM_002793.4(PSMB1):c.364A>T (p.Thr122Ser)not specified [RCV004846296]uncertain significance6170543670170543670Humanname
597749780CV3592001single nucleotide variantNM_002793.4(PSMB1):c.709T>C (p.Ser237Pro)not specified [RCV004846297]likely benign6170535237170535237Humanname
597749785CV3592002single nucleotide variantNM_002793.4(PSMB1):c.362C>G (p.Ser121Cys)not specified [RCV004846298]uncertain significance6170543672170543672Humanname
598170616CV3898166single nucleotide variantNM_002793.4(PSMB1):c.529C>T (p.Leu177Phe)not specified [RCV005263147]uncertain significance6170537245170537245Humanname
598203560CV3896462single nucleotide variantNM_002801.4(PSMB10):c.56+1G>AProteasome-associated autoinflammatory syndrome 5 [RCV005356702]uncertain significance166793669367936693Human1name
405867669CV3400944single nucleotide variantNM_002801.4(PSMB10):c.710+1G>CProteasome-associated autoinflammatory syndrome 5 [RCV004577062]pathogenic166793479667934796Human1name
401919444CV2798364microsatelliteNM_002801.4(PSMB10):c.212AGA[1] (p.Lys72del)PSMB10-related disorder [RCV003402342]uncertain significance166793624067936242Humanname , trait , alternate_id
408384434CV3505341single nucleotide variantNM_002801.4(PSMB10):c.392G>A (p.Gly131Asp)PSMB10-related disorder [RCV004731808]uncertain significance166793568967935689Humanname , trait , alternate_id
401903355CV2817589single nucleotide variantNM_002801.4(PSMB10):c.9G>A (p.Lys3=)not provided [RCV003419379]likely benign166793674167936741Humanname
598124890CV3885456single nucleotide variantNM_002801.4(PSMB10):c.60T>C (p.Asn20=)not specified [RCV005240034]likely benign166793648267936482Humanname
8635173CV90395single nucleotide variantNM_001099780.1(PSMB11):c.7C>T (p.Leu3=)Malignant melanoma [RCV000070493]not provided142304223223042232Humanname
401911735CV2808059single nucleotide variantNM_002801.4(PSMB10):c.660T>C (p.Thr220=)not provided [RCV003426748]likely benign166793484767934847Humanname
401903354CV2817588single nucleotide variantNM_002801.4(PSMB10):c.53A>C (p.Gln18Pro)not provided [RCV003419378]likely benign166793669767936697Humanname
405661872CV3378494single nucleotide variantNM_002801.4(PSMB10):c.45G>T (p.Glu15Asp)not specified [RCV004513268]uncertain significance166793670567936705Humanname
405662034CV3378496single nucleotide variantNM_002801.4(PSMB10):c.711G>A (p.Arg237=)not specified [RCV004513270]likely benign166793467167934671Humanname
405867668CV3400943duplicationNM_002801.4(PSMB10):c.247dup (p.Cys83fs)Proteasome-associated autoinflammatory syndrome 5 [RCV004577061]pathogenic166793609867936099Human1name
597749791CV3592003single nucleotide variantNM_002801.4(PSMB10):c.98C>G (p.Pro33Arg)not specified [RCV004846299]uncertain significance166793644467936444Humanname
597749796CV3592004single nucleotide variantNM_002801.4(PSMB10):c.92A>G (p.Lys31Arg)not specified [RCV004846300]likely benign166793645067936450Humanname
42724046CV984729single nucleotide variantNM_002801.4(PSMB10):c.41T>C (p.Phe14Ser)Proteasome-associated autoinflammatory syndrome 5 [RCV001291934]pathogenic166793670967936709Human1name
156085784CV2340842single nucleotide variantNM_002801.4(PSMB10):c.148G>C (p.Gly50Arg)not specified [RCV004188199]uncertain significance166793630967936309Humanname
405661866CV3378492single nucleotide variantNM_002801.4(PSMB10):c.251G>A (p.Gly84Glu)not specified [RCV004513266]uncertain significance166793609567936095Humanname
405867672CV3400947single nucleotide variantNM_002801.4(PSMB10):c.166G>C (p.Asp56His)Immunodeficiency 121 with autoinflammation [RCV004577065]pathogenic166793629167936291Human1name
596932943CV3539571single nucleotide variantNM_002801.4(PSMB10):c.218T>C (p.Ile73Thr)not provided [RCV004794196]|not specified [RCV005264567]uncertain significance166793623967936239Humanname
617149654CV4021333deletionNM_002801.4(PSMB10):c.366del (p.Arg123fs)not provided [RCV005425302]uncertain significance166793598067935980Humanname
155975038CV2270034single nucleotide variantNM_002801.4(PSMB10):c.424G>A (p.Val142Ile)not specified [RCV004129014]uncertain significance166793565767935657Humanname
156060356CV2323090single nucleotide variantNM_002801.4(PSMB10):c.401G>A (p.Gly134Asp)not specified [RCV004187505]uncertain significance166793568067935680Humanname
243051002CV2413590single nucleotide variantNM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)Proteasome-associated autoinflammatory syndrome 5 [RCV003130347]uncertain significance166793487867934878Human1name
243059741CV2413591single nucleotide variantNM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)Proteasome-associated autoinflammatory syndrome 5 [RCV003135155]|not specified [RCV004246050]uncertain significance166793464667934646Human1name
401757806CV2685559single nucleotide variantNM_002801.4(PSMB10):c.361A>G (p.Ile121Val)not specified [RCV004294571]likely benign166793598567935985Humanname
401761214CV2689067single nucleotide variantNM_002801.4(PSMB10):c.718C>T (p.Arg240Cys)not specified [RCV004305838]uncertain significance166793466467934664Humanname
401730807CV2711506single nucleotide variantNM_002801.4(PSMB10):c.643T>A (p.Cys215Ser)not specified [RCV004306821]uncertain significance166793486467934864Humanname
405661869CV3378493single nucleotide variantNM_002801.4(PSMB10):c.367C>T (p.Arg123Cys)not specified [RCV004513267]likely benign166793597967935979Humanname
405661874CV3378495single nucleotide variantNM_002801.4(PSMB10):c.703G>A (p.Val235Met)not specified [RCV004513269]uncertain significance166793480467934804Humanname
405661884CV3378499single nucleotide variantNM_001099780.2(PSMB11):c.14A>T (p.Asp5Val)not specified [RCV004513273]uncertain significance142304223923042239Humanname
405867667CV3400942single nucleotide variantNM_002801.4(PSMB10):c.500G>A (p.Gly167Asp)Proteasome-associated autoinflammatory syndrome 5 [RCV004577060]pathogenic166793547867935478Human1name
405867670CV3400945single nucleotide variantNM_002801.4(PSMB10):c.601G>A (p.Gly201Arg)Immunodeficiency 121 with autoinflammation [RCV004577063]pathogenic166793490667934906Human1name
405867671CV3400946single nucleotide variantNM_002801.4(PSMB10):c.601G>C (p.Gly201Arg)Immunodeficiency 121 with autoinflammation [RCV004577064]pathogenic166793490667934906Human1name
407531676CV3471871single nucleotide variantNM_002801.4(PSMB10):c.719G>T (p.Arg240Leu)not specified [RCV004657728]uncertain significance166793466367934663Humanname
597749802CV3592005single nucleotide variantNM_002801.4(PSMB10):c.490A>G (p.Thr164Ala)not specified [RCV004846301]uncertain significance166793559167935591Humanname
597749807CV3592006single nucleotide variantNM_002801.4(PSMB10):c.680C>T (p.Thr227Ile)not specified [RCV004846302]uncertain significance166793482767934827Humanname
598170628CV3908108single nucleotide variantNM_002801.4(PSMB10):c.677G>A (p.Arg226Gln)not specified [RCV005263150]uncertain significance166793483067934830Humanname
155919223CV2202440single nucleotide variantNM_001099780.2(PSMB11):c.89C>G (p.Pro30Arg)not specified [RCV004080747]uncertain significance142304231423042314Humanname
156147052CV2357980single nucleotide variantNM_001099780.2(PSMB11):c.68G>A (p.Arg23Gln)not specified [RCV004209760]likely benign142304229323042293Humanname
401862979CV2755754single nucleotide variantNM_001099780.2(PSMB11):c.40A>T (p.Thr14Ser)not specified [RCV004342134]uncertain significance142304226523042265Humanname
405661901CV3378505single nucleotide variantNM_001099780.2(PSMB11):c.97T>G (p.Cys33Gly)not specified [RCV004513279]uncertain significance142304232223042322Humanname
405867666CV3400941deletionNM_002801.4(PSMB10):c.40_42del (p.Phe14del)Proteasome-associated autoinflammatory syndrome 5 [RCV004577059]pathogenic166793670867936710Human1name
407491009CV3471873single nucleotide variantNM_001099780.2(PSMB11):c.92G>A (p.Arg31Gln)not specified [RCV004666761]uncertain significance142304231723042317Humanname
598170640CV3908111single nucleotide variantNM_001099780.2(PSMB11):c.70G>C (p.Ala24Pro)not specified [RCV005263153]uncertain significance142304229523042295Humanname
15173490CV702815single nucleotide variantNM_001099780.2(PSMB11):c.486C>T (p.Tyr162=)not provided [RCV000950228]benign142304271123042711Humanname
15163240CV725620deletionNM_001099780.2(PSMB11):c.237del (p.Ser80fs)not provided [RCV000881926]benign142304246123042461Humanname
156293742CV2243489single nucleotide variantNM_001099780.2(PSMB11):c.251T>A (p.Ile84Asn)not specified [RCV004112451]uncertain significance142304247623042476Humanname
155989631CV2282818single nucleotide variantNM_001099780.2(PSMB11):c.200C>T (p.Thr67Met)not specified [RCV004141662]uncertain significance142304242523042425Humanname
156196692CV2306744single nucleotide variantNM_001099780.2(PSMB11):c.152C>T (p.Thr51Ile)not specified [RCV004159327]uncertain significance142304237723042377Humanname
156122882CV2349977single nucleotide variantNM_001099780.2(PSMB11):c.125A>G (p.His42Arg)not specified [RCV004199905]uncertain significance142304235023042350Humanname
155999754CV2373452single nucleotide variantNM_001099780.2(PSMB11):c.104C>T (p.Pro35Leu)not specified [RCV004220150]uncertain significance142304232923042329Humanname
156076376CV2375032single nucleotide variantNM_001099780.2(PSMB11):c.167G>A (p.Arg56His)not specified [RCV004230083]uncertain significance142304239223042392Humanname
401942590CV2839679single nucleotide variantNM_001099780.2(PSMB11):c.200C>A (p.Thr67Lys)not provided [RCV003456600]uncertain significance142304242523042425Humanname
405661882CV3378498single nucleotide variantNM_001099780.2(PSMB11):c.120G>T (p.Gln40His)not specified [RCV004513272]uncertain significance142304234523042345Humanname
405661887CV3378500single nucleotide variantNM_001099780.2(PSMB11):c.265C>A (p.His89Asn)not specified [RCV004513274]uncertain significance142304249023042490Humanname
407531680CV3471875single nucleotide variantNM_001099780.2(PSMB11):c.241T>C (p.Cys81Arg)not specified [RCV004657730]likely benign142304246623042466Humanname
597749812CV3592007single nucleotide variantNM_001099780.2(PSMB11):c.203G>A (p.Arg68His)not specified [RCV004846303]uncertain significance142304242823042428Humanname
597749830CV3592011single nucleotide variantNM_001099780.2(PSMB11):c.110C>A (p.Thr37Asn)not specified [RCV004846306]uncertain significance142304233523042335Humanname
598170644CV3908112single nucleotide variantNM_001099780.2(PSMB11):c.281C>A (p.Thr94Asn)not specified [RCV005263154]uncertain significance142304250623042506Humanname
598170648CV3908113single nucleotide variantNM_001099780.2(PSMB11):c.256G>A (p.Val86Met)not specified [RCV005263155]uncertain significance142304248123042481Humanname
598170652CV3908114single nucleotide variantNM_001099780.2(PSMB11):c.223G>A (p.Val75Met)not specified [RCV005263156]uncertain significance142304244823042448Humanname
15174919CV702814single nucleotide variantNM_001099780.2(PSMB11):c.145G>A (p.Gly49Ser)not provided [RCV000950454]benign142304237023042370Human3name
15174919CV702814single nucleotide variantNM_001099780.2(PSMB11):c.145G>A (p.Gly49Ser)not provided [RCV000950454]benign142304237023042371Human3name
156074765CV2198044single nucleotide variantNM_001099780.2(PSMB11):c.487G>A (p.Val163Ile)not specified [RCV004079647]uncertain significance142304271223042712Humanname
155935213CV2225525single nucleotide variantNM_001099780.2(PSMB11):c.577C>T (p.Arg193Cys)not specified [RCV004100912]uncertain significance142304280223042802Humanname
156047637CV2244907single nucleotide variantNM_001099780.2(PSMB11):c.358G>A (p.Gly120Ser)not specified [RCV004104659]uncertain significance142304258323042583Humanname
155958373CV2282190single nucleotide variantNM_001099780.2(PSMB11):c.481T>C (p.Phe161Leu)not specified [RCV004138907]uncertain significance142304270623042706Humanname
156018459CV2302860single nucleotide variantNM_001099780.2(PSMB11):c.686G>A (p.Arg229Gln)not specified [RCV004162759]uncertain significance142304291123042911Humanname
156272863CV2344048single nucleotide variantNM_001099780.2(PSMB11):c.329G>A (p.Arg110Gln)not specified [RCV004195657]uncertain significance142304255423042554Humanname
155984332CV2344406single nucleotide variantNM_001099780.2(PSMB11):c.463C>T (p.Arg155Cys)not specified [RCV004195156]uncertain significance142304268823042688Humanname
156235345CV2346352single nucleotide variantNM_001099780.2(PSMB11):c.583G>A (p.Asp195Asn)not specified [RCV004203835]uncertain significance142304280823042808Humanname
156205704CV2385242single nucleotide variantNM_001099780.2(PSMB11):c.682G>A (p.Val228Met)not specified [RCV004228486]uncertain significance142304290723042907Humanname
156195866CV2400556single nucleotide variantNM_001099780.2(PSMB11):c.617G>A (p.Arg206His)not specified [RCV004246746]uncertain significance142304284223042842Humanname
401780526CV2674065single nucleotide variantNM_001099780.2(PSMB11):c.643C>T (p.Arg215Cys)not specified [RCV004295473]uncertain significance142304286823042868Humanname
401910313CV2810269single nucleotide variantNM_001099780.2(PSMB11):c.344G>A (p.Arg115Gln)not provided [RCV003424943]likely benign142304256923042569Humanname
405661890CV3378501single nucleotide variantNM_001099780.2(PSMB11):c.368C>T (p.Pro123Leu)not specified [RCV004513275]uncertain significance142304259323042593Humanname
405661896CV3378503single nucleotide variantNM_001099780.2(PSMB11):c.757G>A (p.Glu253Lys)not specified [RCV004513277]uncertain significance142304298223042982Humanname
405661899CV3378504single nucleotide variantNM_001099780.2(PSMB11):c.776A>G (p.Asp259Gly)not specified [RCV004513278]uncertain significance142304300123043001Humanname
407531678CV3471872single nucleotide variantNM_001099780.2(PSMB11):c.578G>A (p.Arg193His)not specified [RCV004657729]uncertain significance142304280323042803Humanname
407491012CV3471874single nucleotide variantNM_001099780.2(PSMB11):c.896C>T (p.Thr299Met)not specified [RCV004666762]uncertain significance142304312123043121Humanname
597749818CV3592008single nucleotide variantNM_001099780.2(PSMB11):c.712C>T (p.Arg238Cys)not specified [RCV004846304]uncertain significance142304293723042937Humanname
597749824CV3592010single nucleotide variantNM_001099780.2(PSMB11):c.736G>A (p.Val246Met)not specified [RCV004846305]likely benign142304296123042961Humanname
598170632CV3908109single nucleotide variantNM_001099780.2(PSMB11):c.638C>T (p.Thr213Ile)not specified [RCV005263151]uncertain significance142304286323042863Humanname
598170636CV3908110single nucleotide variantNM_001099780.2(PSMB11):c.820G>A (p.Ala274Thr)not specified [RCV005263152]uncertain significance142304304523043045Humanname
15122751CV714067single nucleotide variantNM_001099780.2(PSMB11):c.607G>A (p.Ala203Thr)not provided [RCV000963122]benign142304283223042832Humanname
15152059CV714068single nucleotide variantNM_001099780.2(PSMB11):c.622G>A (p.Ala208Thr)not provided [RCV000968273]benign142304284723042847Humanname