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109 records found for search term Ndufb9
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150532880CV1308171single nucleotide variantNM_005005.3(NDUFB9):c.-51A>GMitochondrial complex 1 deficiency, nuclear type 24 [RCV002503251]|not provided [RCV001753162]likely benign8124539136124539136Human1name
8692207CV142173single nucleotide variantNM_005005.3(NDUFB9):c.-43A>Gnot provided [RCV004712117]|not specified [RCV000127135]benign8124539144124539144Humanname
8692208CV142174single nucleotide variantNM_005005.3(NDUFB9):c.-36C>Gnot provided [RCV004712118]|not specified [RCV000127136]benign8124539151124539151Humanname
12833749CV371487single nucleotide variantNM_005005.3(NDUFB9):c.-47G>Tnot specified [RCV000419111]likely benign8124539140124539140Humanname
12833009CV371491single nucleotide variantNM_005005.3(NDUFB9):c.-18G>Tnot specified [RCV000417676]likely benign8124539169124539169Humanname
13541800CV502273single nucleotide variantNM_005005.3(NDUFB9):c.-26C>Tnot specified [RCV000616660]likely benign8124539161124539161Humanname
13529805CV502575single nucleotide variantNM_005005.3(NDUFB9):c.-31C>Tnot specified [RCV000605873]likely benign8124539156124539156Humanname
14719808CV655827single nucleotide variantNM_005005.3(NDUFB9):c.-64A>Gnot provided [RCV000830945]benign8124539123124539123Humanname
14729927CV663146single nucleotide variantNM_005005.2(NDUFB9):c.-133C>Tnot provided [RCV000835442]likely benign8124539054124539054Humanname
156012146CV2011541single nucleotide variantNM_005005.3(NDUFB9):c.408+5G>Anot provided [RCV002690573]uncertain significance8124547118124547118Humanname
156310297CV2031497single nucleotide variantNM_005005.3(NDUFB9):c.102-4T>Gnot provided [RCV002716494]uncertain significance8124543083124543083Humanname
401739099CV2738479single nucleotide variantNM_005005.3(NDUFB9):c.409-1G>Cnot specified [RCV003317871]uncertain significance8124549760124549760Humanname
12906582CV415121single nucleotide variantNM_005005.3(NDUFB9):c.294+5G>TMitochondrial complex 1 deficiency, nuclear type 24 [RCV004787797]|not provided [RCV000489390]likely pathogenic|uncertain significance8124543284124543284Human1name
15191557CV775288single nucleotide variantNM_005005.3(NDUFB9):c.101+7G>Anot provided [RCV000932834]likely benign8124539294124539294Humanname
150472282CV1281177single nucleotide variantNM_005005.3(NDUFB9):c.101+39C>Tnot provided [RCV001713342]benign8124539326124539326Humanname
150539382CV1308731single nucleotide variantNM_005005.3(NDUFB9):c.102-75A>Tnot provided [RCV001766235]likely benign8124543012124543012Humanname
152088648CV1626216single nucleotide variantNM_005005.3(NDUFB9):c.294+15T>Cnot provided [RCV002131767]likely benign8124543294124543294Humanname
156073788CV1969031single nucleotide variantNM_005005.3(NDUFB9):c.294+10A>Gnot provided [RCV002621325]|not specified [RCV005419477]likely benign8124543289124543289Humanname
155905815CV2048134single nucleotide variantNM_005005.3(NDUFB9):c.408+20C>Tnot provided [RCV002771258]benign8124547133124547133Humanname
155969675CV2079138single nucleotide variantNM_005005.3(NDUFB9):c.408+12T>Cnot provided [RCV002881426]likely benign8124547125124547125Humanname
12833703CV369689single nucleotide variantNM_005005.3(NDUFB9):c.294+13T>Cnot provided [RCV002063482]|not specified [RCV000419004]benign|likely benign8124543292124543292Humanname
597838844CV3824850single nucleotide variantNM_005005.3(NDUFB9):c.408+16A>Tnot provided [RCV005171714]likely benign8124547129124547129Humanname
14719390CV663149single nucleotide variantNM_005005.3(NDUFB9):c.102-46C>Tnot provided [RCV000830753]benign8124543041124543041Humanname
14730500CV663205single nucleotide variantNM_005005.3(NDUFB9):c.408+61C>Tnot provided [RCV000835709]benign8124547174124547174Humanname
150487190CV1237292deletionNM_005005.3(NDUFB9):c.295-255delnot provided [RCV001654141]benign8124546742124546742Humanname
150492613CV1268279single nucleotide variantNM_005005.3(NDUFB9):c.102-241A>Cnot provided [RCV001688011]benign8124542846124542846Humanname
150542576CV1307821single nucleotide variantNM_005005.3(NDUFB9):c.101+240G>Cnot provided [RCV001769596]likely benign8124539527124539527Humanname
150534665CV1307903single nucleotide variantNM_005005.3(NDUFB9):c.409-239T>Anot provided [RCV001757625]likely benign8124549522124549522Humanname
150532657CV1308037single nucleotide variantNM_005005.3(NDUFB9):c.295-192C>Gnot provided [RCV001753027]likely benign8124546808124546808Humanname
150543347CV1308948single nucleotide variantNM_005005.3(NDUFB9):c.294+223G>Anot provided [RCV001769861]likely benign8124543502124543502Humanname
14744653CV663123single nucleotide variantNM_005005.3(NDUFB9):c.294+265C>Tnot provided [RCV000842891]benign8124543544124543544Humanname
14712974CV663150single nucleotide variantNM_005005.3(NDUFB9):c.409-304T>Gnot provided [RCV000828586]benign8124549457124549457Humanname
14712978CV663156single nucleotide variantNM_005005.3(NDUFB9):c.409-247G>Anot provided [RCV000828587]benign8124549514124549514Humanname
15168812CV736423single nucleotide variantNM_005005.3(NDUFB9):c.9C>T (p.Phe3=)not provided [RCV000904935]likely benign8124539195124539195Humanname
8692209CV142175single nucleotide variantNM_005005.3(NDUFB9):c.24C>T (p.Pro8=)Mitochondrial complex 1 deficiency, nuclear type 24 [RCV002483253]|not provided [RCV000883081]|not specified [RCV000127137]benign|likely benign8124539210124539210Human1name
12849942CV369683single nucleotide variantNM_005005.3(NDUFB9):c.1A>G (p.Met1Val)not provided [RCV000438795]|not specified [RCV002222504]pathogenic|conflicting interpretations of pathogenicity|uncertain significance8124539187124539187Humanname
597886347CV3787400single nucleotide variantNM_005005.3(NDUFB9):c.64C>A (p.Arg22=)not provided [RCV005124966]likely benign8124539250124539250Humanname
15180580CV722838single nucleotide variantNM_005005.3(NDUFB9):c.84G>A (p.Glu28=)not provided [RCV000885562]likely benign8124539270124539270Humanname
15100843CV782988single nucleotide variantNM_005005.3(NDUFB9):c.81C>G (p.Leu27=)not provided [RCV000975475]likely benign8124539267124539267Humanname
150447040CV1261462single nucleotide variantNM_005005.3(NDUFB9):c.174G>A (p.Ala58=)not provided [RCV001680136]likely benign8124543159124543159Humanname
151881019CV1406054single nucleotide variantNM_005005.3(NDUFB9):c.26A>G (p.Tyr9Cys)not provided [RCV001941036]uncertain significance8124539212124539212Humanname
152053943CV1543834single nucleotide variantNM_005005.3(NDUFB9):c.297C>G (p.Val99=)not provided [RCV002167206]likely benign8124547002124547002Humanname
156001912CV1987863single nucleotide variantNM_005005.3(NDUFB9):c.11T>G (p.Leu4Trp)not provided [RCV002618491]|not specified [RCV004065912]uncertain significance8124539197124539197Humanname
156019361CV2046932single nucleotide variantNM_005005.3(NDUFB9):c.282C>T (p.Tyr94=)not provided [RCV002780571]likely benign8124543267124543267Humanname
156311406CV2063440single nucleotide variantNM_005005.3(NDUFB9):c.237A>G (p.Pro79=)not provided [RCV002834144]likely benign8124543222124543222Humanname
10411222CV211333single nucleotide variantNM_005005.3(NDUFB9):c.23C>T (p.Pro8Leu)not provided [RCV002054331]|not specified [RCV000199816]likely benign8124539209124539209Humanname
10410257CV211335single nucleotide variantNM_005005.3(NDUFB9):c.201C>T (p.Ala67=)not provided [RCV000677049]|not specified [RCV000197811]benign|likely benign8124543186124543186Humanname
405191508CV3069865single nucleotide variantNM_005005.3(NDUFB9):c.225G>A (p.Gln75=)not provided [RCV003729687]likely benign8124543210124543210Humanname
150541785CV1306552deletionNM_005005.3(NDUFB9):c.408+295_408+299delnot provided [RCV001768175]likely benign8124547406124547410Humanname
150542504CV1307788deletionNM_005005.3(NDUFB9):c.102-280_102-273delnot provided [RCV001769563]likely benign8124542803124542810Humanname
152113742CV1586231single nucleotide variantNM_005005.3(NDUFB9):c.462G>A (p.Leu154=)not provided [RCV002153391]benign8124549814124549814Humanname
156009750CV1991628single nucleotide variantNM_005005.3(NDUFB9):c.489G>A (p.Leu163=)not provided [RCV002618843]likely benign8124549841124549841Humanname
155954001CV2161520single nucleotide variantNM_005005.3(NDUFB9):c.471C>T (p.Ala157=)not provided [RCV003032586]likely benign8124549823124549823Humanname
156092192CV2300118single nucleotide variantNM_005005.3(NDUFB9):c.65G>A (p.Arg22Gln)not specified [RCV004151313]uncertain significance8124539251124539251Humanname
401724734CV2714951single nucleotide variantNM_005005.3(NDUFB9):c.79C>G (p.Leu27Val)not specified [RCV004322274]uncertain significance8124539265124539265Humanname
401930749CV2828490single nucleotide variantNM_005005.3(NDUFB9):c.432G>A (p.Thr144=)not provided [RCV003440625]likely benign8124549784124549784Humanname
405240773CV3004561single nucleotide variantNM_005005.3(NDUFB9):c.414G>A (p.Lys138=)not provided [RCV003719155]likely benign8124549766124549766Humanname
405030666CV3012733single nucleotide variantNM_005005.3(NDUFB9):c.420G>T (p.Leu140=)not provided [RCV003695544]likely benign8124549772124549772Humanname
405210331CV3117646single nucleotide variantNM_005005.3(NDUFB9):c.82G>C (p.Glu28Gln)not provided [RCV003823245]uncertain significance8124539268124539268Humanname
405142703CV3155639single nucleotide variantNM_005005.3(NDUFB9):c.303A>G (p.Glu101=)not provided [RCV003855681]likely benign8124547008124547008Humanname
405135198CV3160224single nucleotide variantNM_005005.3(NDUFB9):c.29T>G (p.Leu10Arg)not provided [RCV003855039]uncertain significance8124539215124539215Humanname
597669482CV3555624single nucleotide variantNM_005005.3(NDUFB9):c.64C>T (p.Arg22Trp)not provided [RCV005061492]|not specified [RCV004829565]uncertain significance8124539250124539250Humanname
13540290CV501898single nucleotide variantNM_005005.3(NDUFB9):c.477G>A (p.Lys159=)not specified [RCV000614491]likely benign8124549829124549829Humanname
13538704CV502184single nucleotide variantNM_005005.3(NDUFB9):c.364A>C (p.Arg122=)not provided [RCV000930205]|not specified [RCV000612220]likely benign8124547069124547069Humanname
126737055CV1020431single nucleotide variantNM_005005.3(NDUFB9):c.148G>T (p.Glu50Ter)Mitochondrial complex I deficiency, nuclear type 1 [RCV001335221]pathogenic8124543133124543133Humanname
126909489CV1045236single nucleotide variantNM_005005.3(NDUFB9):c.283G>A (p.Asp95Asn)not provided [RCV001368517]uncertain significance8124543268124543268Humanname
151844384CV1363439single nucleotide variantNM_005005.3(NDUFB9):c.171G>A (p.Met57Ile)not provided [RCV002032212]|not specified [RCV004044873]uncertain significance8124543156124543156Humanname
151884562CV1412451duplicationNM_005005.3(NDUFB9):c.311dup (p.Leu104fs)not provided [RCV001887176]uncertain significance8124547014124547015Humanname
151862544CV1420243single nucleotide variantNM_005005.3(NDUFB9):c.215G>T (p.Trp72Leu)not provided [RCV001980306]uncertain significance8124543200124543200Humanname
151871874CV1437116single nucleotide variantNM_005005.3(NDUFB9):c.173C>T (p.Ala58Val)not provided [RCV002035776]uncertain significance8124543158124543158Humanname
151757093CV1443475single nucleotide variantNM_005005.3(NDUFB9):c.272A>G (p.Tyr91Cys)not provided [RCV001872829]uncertain significance8124543257124543257Humanname
151757271CV1459737single nucleotide variantNM_005005.3(NDUFB9):c.112C>T (p.Arg38Ter)not provided [RCV001986877]uncertain significance8124543097124543097Humanname
151786721CV1513660single nucleotide variantNM_005005.3(NDUFB9):c.139C>T (p.Arg47Trp)not provided [RCV001916399]uncertain significance8124543124124543124Humanname
156095540CV2012802single nucleotide variantNM_005005.3(NDUFB9):c.256C>T (p.Pro86Ser)not provided [RCV002706471]|not specified [RCV004067670]uncertain significance8124543241124543241Humanname
156065737CV2054368single nucleotide variantNM_005005.3(NDUFB9):c.136G>A (p.Ala46Thr)not provided [RCV002797246]uncertain significance8124543121124543121Humanname
10410733CV211334single nucleotide variantNM_005005.2(NDUFB9):c.182C>T (p.Thr61Ile)not provided [RCV000198785]likely pathogenic8124543167124543167Humanname
155934711CV2114042single nucleotide variantNM_005005.3(NDUFB9):c.161A>T (p.Glu54Val)not provided [RCV002904048]uncertain significance8124543146124543146Humanname
402497648CV2871645single nucleotide variantNM_005005.3(NDUFB9):c.280T>A (p.Tyr94Asn)not provided [RCV003545582]uncertain significance8124543265124543265Humanname
405216896CV2872609single nucleotide variantNM_005005.3(NDUFB9):c.167A>T (p.Asp56Val)not provided [RCV003553340]uncertain significance8124543152124543152Humanname
405182251CV2952662single nucleotide variantNM_005005.3(NDUFB9):c.193A>G (p.Lys65Glu)not provided [RCV003676392]uncertain significance8124543178124543178Humanname
405801532CV3348587single nucleotide variantNM_005005.3(NDUFB9):c.103G>C (p.Asp35His)not specified [RCV004477850]uncertain significance8124543088124543088Humanname
405805832CV3348597single nucleotide variantNM_005005.3(NDUFB9):c.186G>C (p.Gln62His)not specified [RCV004479929]uncertain significance8124543171124543171Humanname
407526001CV3454712single nucleotide variantNM_005005.3(NDUFB9):c.221G>A (p.Arg74His)not specified [RCV004654649]uncertain significance8124543206124543206Humanname
597669489CV3555625single nucleotide variantNM_005005.3(NDUFB9):c.173C>G (p.Ala58Gly)not specified [RCV004829566]uncertain significance8124543158124543158Humanname
597875622CV3775650single nucleotide variantNM_005005.3(NDUFB9):c.224A>G (p.Gln75Arg)not provided [RCV005123381]uncertain significance8124543209124543209Humanname
597892541CV3785340single nucleotide variantNM_005005.3(NDUFB9):c.130A>C (p.Met44Leu)not provided [RCV005125926]uncertain significance8124543115124543115Humanname
598230948CV4004103single nucleotide variantNM_005005.3(NDUFB9):c.154A>G (p.Lys52Glu)not specified [RCV005381278]uncertain significance8124543139124543139Humanname
598253909CV4004104single nucleotide variantNM_005005.3(NDUFB9):c.281A>C (p.Tyr94Ser)not specified [RCV005385421]uncertain significance8124543266124543266Humanname
13484949CV444209single nucleotide variantNM_005005.3(NDUFB9):c.109T>C (p.Tyr37His)NDUFB9-related disorder [RCV003962445]|not provided [RCV000522472]likely benign|conflicting interpretations of pathogenicity|uncertain significance8124543094124543094Human1name , trait , alternate_id
15166903CV711278single nucleotide variantNM_005005.3(NDUFB9):c.140G>T (p.Arg47Leu)not provided [RCV000971286]likely benign8124543125124543125Humanname
8573221CV76372single nucleotide variantNM_005005.3(NDUFB9):c.191T>C (p.Leu64Pro)Mitochondrial complex 1 deficiency, nuclear type 24 [RCV000055653]pathogenic8124543176124543176Human1name
126912381CV1037844single nucleotide variantNM_005005.3(NDUFB9):c.536T>C (p.Met179Thr)not provided [RCV001356474]|not specified [RCV004034463]likely benign|uncertain significance8124549888124549888Humanname
150404443CV1175571single nucleotide variantNM_005005.3(NDUFB9):c.431C>T (p.Thr144Met)Mitochondrial complex 1 deficiency, nuclear type 24 [RCV001544550]|not provided [RCV001859362]pathogenic|uncertain significance8124549783124549783Human1name
8692206CV142172single nucleotide variantNM_005005.3(NDUFB9):c.436C>T (p.Pro146Ser)not provided [RCV000677050]|not specified [RCV000127134]benign8124549788124549788Humanname
151739478CV1437612single nucleotide variantNM_005005.3(NDUFB9):c.386G>A (p.Arg129Gln)not provided [RCV001870878]uncertain significance8124547091124547091Humanname
151833180CV1475419single nucleotide variantNM_005005.3(NDUFB9):c.340A>G (p.Met114Val)not provided [RCV001993909]uncertain significance8124547045124547045Humanname
151797364CV1512844single nucleotide variantNM_005005.3(NDUFB9):c.524G>A (p.Arg175Gln)not provided [RCV001866808]|not specified [RCV005419229]uncertain significance8124549876124549876Humanname
156367454CV1902833single nucleotide variantNM_005005.3(NDUFB9):c.307T>G (p.Cys103Gly)not provided [RCV003092162]|not specified [RCV004073204]uncertain significance8124547012124547012Humanname
156305762CV2013720single nucleotide variantNM_005005.3(NDUFB9):c.523C>T (p.Arg175Trp)not provided [RCV002716270]uncertain significance8124549875124549875Humanname
155943583CV2072390single nucleotide variantNM_005005.3(NDUFB9):c.505T>C (p.Tyr169His)not provided [RCV002861934]uncertain significance8124549857124549857Humanname
10409517CV211336single nucleotide variantNM_005005.3(NDUFB9):c.472C>G (p.Arg158Gly)Mitochondrial complex I deficiency [RCV005365120]|not provided [RCV000677051]uncertain significance8124549824124549824Human1name
156403018CV2189692single nucleotide variantNM_005005.3(NDUFB9):c.404G>A (p.Arg135Gln)not provided [RCV003052511]uncertain significance8124547109124547109Humanname
401746812CV2678925single nucleotide variantNM_005005.3(NDUFB9):c.373T>G (p.Trp125Gly)not specified [RCV004294943]uncertain significance8124547078124547078Humanname
11640812CV275396single nucleotide variantNM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln)not provided [RCV000726624]|not specified [RCV000344205]likely benign|conflicting interpretations of pathogenicity|uncertain significance8124549882124549882Humanname
405195601CV3146466single nucleotide variantNM_005005.3(NDUFB9):c.385C>T (p.Arg129Trp)not provided [RCV003843821]uncertain significance8124547090124547090Humanname
12849499CV364258single nucleotide variantNM_005005.3(NDUFB9):c.477G>C (p.Lys159Asn)not provided [RCV000430968]uncertain significance8124549829124549829Humanname
598230953CV4004105single nucleotide variantNM_005005.3(NDUFB9):c.383T>C (p.Leu128Pro)not specified [RCV005381279]uncertain significance8124547088124547088Humanname
598208454CV4007703single nucleotide variantNM_005005.3(NDUFB9):c.479A>G (p.Glu160Gly)Mitochondrial complex 1 deficiency, nuclear type 24 [RCV005400017]uncertain significance8124549831124549831Human1name
12905835CV413782single nucleotide variantNM_005005.3(NDUFB9):c.347C>T (p.Pro116Leu)not provided [RCV000488057]likely pathogenic|uncertain significance8124547052124547052Humanname