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78 records found for search term Atp6v0d2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156434759CV2403100single nucleotide variantNM_152565.1(ATP6V0D2):c.-54C>Tnot provided [RCV003127056]likely benign88609892586098925Humanname
15111048CV730589single nucleotide variantNM_152565.1(ATP6V0D2):c.891+1G>Tnot provided [RCV000894191]benign88615154186151541Humanname
150461728CV1231512single nucleotide variantNM_152565.1(ATP6V0D2):c.130+31G>Anot provided [RCV001641079]benign88609913986099139Humanname
150451091CV1232754duplicationNM_152565.1(ATP6V0D2):c.130+44dupnot provided [RCV001647829]benign88609913986099140Humanname
150489786CV1239006single nucleotide variantNM_152565.1(ATP6V0D2):c.562-69G>Anot provided [RCV001654574]benign88614280886142808Humanname
150477561CV1240048single nucleotide variantNM_152565.1(ATP6V0D2):c.892-34T>Cnot provided [RCV001652226]benign88615278286152782Humanname
150486143CV1262237single nucleotide variantNM_152565.1(ATP6V0D2):c.639+42C>Tnot provided [RCV001686928]benign88614299686142996Humanname
150442587CV1264458single nucleotide variantNM_152565.1(ATP6V0D2):c.562-12T>Cnot provided [RCV001679441]benign88614286586142865Humanname
150492146CV1267893single nucleotide variantNM_152565.1(ATP6V0D2):c.302+42G>Anot provided [RCV001687919]benign88611392286113922Humanname
150463710CV1273191single nucleotide variantNM_152565.1(ATP6V0D2):c.303-80G>Cnot provided [RCV001693948]benign88613937786139377Humanname
150490457CV1279740single nucleotide variantNM_152565.1(ATP6V0D2):c.302+69G>Cnot provided [RCV001716477]benign88611394986113949Humanname
150338975CV1167448single nucleotide variantNM_152565.1(ATP6V0D2):c.892-159T>Cnot provided [RCV001533955]benign88615265786152657Humanname
150337559CV1171871single nucleotide variantNM_152565.1(ATP6V0D2):c.816+277G>Tnot provided [RCV001541726]benign88615056586150565Humanname
150512165CV1212932single nucleotide variantNM_152565.1(ATP6V0D2):c.131-310G>Anot provided [RCV001598164]benign88611339986113399Humanname
150515990CV1216401single nucleotide variantNM_152565.1(ATP6V0D2):c.817-240T>Cnot provided [RCV001608592]benign88615122686151226Humanname
150438777CV1221212single nucleotide variantNM_152565.1(ATP6V0D2):c.640-243T>Anot provided [RCV001609906]benign88614986986149869Humanname
150511896CV1228372deletionNM_152565.1(ATP6V0D2):c.302+270delnot provided [RCV001637504]benign88611414086114140Humanname
150511111CV1229358single nucleotide variantNM_152565.1(ATP6V0D2):c.816+273G>Anot provided [RCV001637286]benign88615056186150561Humanname
150434498CV1230803deletionNM_152565.1(ATP6V0D2):c.891+233delnot provided [RCV001643750]benign88615175686151756Humanname
150501007CV1238296duplicationNM_152565.1(ATP6V0D2):c.817-245dupnot provided [RCV001656726]benign88615122086151221Humanname
150442244CV1246861single nucleotide variantNM_152565.1(ATP6V0D2):c.130+178A>Cnot provided [RCV001666515]benign88609928686099286Humanname
150487981CV1251602single nucleotide variantNM_152565.1(ATP6V0D2):c.817-199C>Anot provided [RCV001674273]benign88615126786151267Humanname
150488067CV1251613deletionNM_152565.1(ATP6V0D2):c.639+100delnot provided [RCV001674285]benign88614304686143046Humanname
150448759CV1275585single nucleotide variantNM_152565.1(ATP6V0D2):c.891+284C>Tnot provided [RCV001708040]benign88615182486151824Humanname
150483343CV1280188single nucleotide variantNM_152565.1(ATP6V0D2):c.561+146C>Tnot provided [RCV001715172]benign88614167586141675Humanname
150532755CV1308101single nucleotide variantNM_152565.1(ATP6V0D2):c.891+215C>Tnot provided [RCV001753091]likely benign88615175586151755Humanname
150508246CV1229597deletionNM_152565.1(ATP6V0D2):c.*207_*208delnot provided [RCV001636175]benign88615318486153185Humanname
407528231CV3489069single nucleotide variantNM_152565.1(ATP6V0D2):c.14C>T (p.Ala5Val)not specified [RCV004680308]uncertain significance88609899286098992Humanname
150471953CV1217104microsatelliteNM_152565.1(ATP6V0D2):c.891+215_891+218delnot provided [RCV001615399]benign88615174886151751Humanname
150484226CV1263132deletionNM_152565.1(ATP6V0D2):c.891+215_891+217delnot provided [RCV001686532]benign88615175386151755Humanname
329388486CV2471961single nucleotide variantNM_152565.1(ATP6V0D2):c.29A>G (p.Asn10Ser)not specified [RCV004280973]uncertain significance88609900786099007Humanname
597800761CV3610733single nucleotide variantNM_152565.1(ATP6V0D2):c.38A>T (p.His13Leu)not specified [RCV004880380]uncertain significance88609901686099016Humanname
15188030CV723197single nucleotide variantNM_152565.1(ATP6V0D2):c.864A>C (p.Thr288=)not provided [RCV000887417]likely benign88615151386151513Humanname
156345577CV2291109single nucleotide variantNM_152565.1(ATP6V0D2):c.200T>C (p.Val67Ala)not specified [RCV004151634]uncertain significance88611377886113778Humanname
156056509CV2396247single nucleotide variantNM_152565.1(ATP6V0D2):c.256C>T (p.Arg86Trp)not specified [RCV004240199]uncertain significance88611383486113834Humanname
401774444CV2727843single nucleotide variantNM_152565.1(ATP6V0D2):c.209T>C (p.Ile70Thr)not specified [RCV004323865]uncertain significance88611378786113787Humanname
405667058CV3297651single nucleotide variantNM_152565.1(ATP6V0D2):c.101T>C (p.Ile34Thr)not specified [RCV004418729]uncertain significance88609907986099079Humanname
405667063CV3297652single nucleotide variantNM_152565.1(ATP6V0D2):c.125T>G (p.Leu42Arg)not specified [RCV004418730]uncertain significance88609910386099103Humanname
597800831CV3610791single nucleotide variantNM_152565.1(ATP6V0D2):c.275C>A (p.Pro92His)not specified [RCV004880413]uncertain significance88611385386113853Humanname
597800893CV3610822single nucleotide variantNM_152565.1(ATP6V0D2):c.250T>C (p.Tyr84His)not specified [RCV004880442]uncertain significance88611382886113828Humanname
598176781CV3924342single nucleotide variantNM_152565.1(ATP6V0D2):c.197C>T (p.Thr66Ile)not specified [RCV005285704]uncertain significance88611377586113775Humanname
150485593CV1223029single nucleotide variantNM_152565.1(ATP6V0D2):c.814G>A (p.Gly272Arg)not provided [RCV001617742]benign88615028686150286Humanname
156269399CV2195086single nucleotide variantNM_152565.1(ATP6V0D2):c.758G>A (p.Arg253Gln)not specified [RCV004077996]uncertain significance88615023086150230Humanname
156362828CV2265611single nucleotide variantNM_152565.1(ATP6V0D2):c.874G>A (p.Val292Met)not specified [RCV004124346]uncertain significance88615152386151523Humanname
155915513CV2274224single nucleotide variantNM_152565.1(ATP6V0D2):c.529A>C (p.Asn177His)not specified [RCV004136630]uncertain significance88614149786141497Humanname
155928952CV2356587single nucleotide variantNM_152565.1(ATP6V0D2):c.934G>A (p.Gly312Ser)not specified [RCV004201953]uncertain significance88615285886152858Humanname
156190301CV2356724single nucleotide variantNM_152565.1(ATP6V0D2):c.809A>G (p.His270Arg)not specified [RCV004202074]uncertain significance88615028186150281Humanname
156158458CV2363902single nucleotide variantNM_152565.1(ATP6V0D2):c.733G>T (p.Gly245Cys)not specified [RCV004218873]uncertain significance88615020586150205Humanname
329373932CV2452717single nucleotide variantNM_152565.1(ATP6V0D2):c.962A>G (p.Lys321Arg)not specified [RCV004275268]uncertain significance88615288686152886Humanname
329376696CV2454996single nucleotide variantNM_152565.1(ATP6V0D2):c.454A>G (p.Asn152Asp)not specified [RCV004272260]uncertain significance88613960886139608Humanname
401757765CV2685287single nucleotide variantNM_152565.1(ATP6V0D2):c.329T>C (p.Ile110Thr)not specified [RCV004292287]uncertain significance88613948386139483Humanname
401784360CV2717295single nucleotide variantNM_152565.1(ATP6V0D2):c.499T>G (p.Cys167Gly)not specified [RCV004330192]uncertain significance88614146786141467Humanname
401856420CV2764771single nucleotide variantNM_152565.1(ATP6V0D2):c.823A>G (p.Lys275Glu)not specified [RCV004334878]uncertain significance88615147286151472Humanname
401856740CV2764915single nucleotide variantNM_152565.1(ATP6V0D2):c.440C>T (p.Pro147Leu)not specified [RCV004335005]uncertain significance88613959486139594Humanname
401882801CV2774915single nucleotide variantNM_152565.1(ATP6V0D2):c.743A>G (p.Tyr248Cys)not specified [RCV004346326]uncertain significance88615021586150215Humanname
405667071CV3297654single nucleotide variantNM_152565.1(ATP6V0D2):c.500G>A (p.Cys167Tyr)not specified [RCV004418732]uncertain significance88614146886141468Humanname
405667076CV3297655single nucleotide variantNM_152565.1(ATP6V0D2):c.697A>C (p.Ser233Arg)not specified [RCV004418733]uncertain significance88615016986150169Humanname
405667078CV3297656single nucleotide variantNM_152565.1(ATP6V0D2):c.722A>G (p.Tyr241Cys)not specified [RCV004418734]uncertain significance88615019486150194Humanname
405667083CV3297657single nucleotide variantNM_152565.1(ATP6V0D2):c.725C>T (p.Pro242Leu)not specified [RCV004418735]uncertain significance88615019786150197Humanname
405667093CV3297659single nucleotide variantNM_152565.1(ATP6V0D2):c.745C>T (p.Pro249Ser)not specified [RCV004418737]uncertain significance88615021786150217Humanname
405667097CV3297660single nucleotide variantNM_152565.1(ATP6V0D2):c.851G>A (p.Ser284Asn)not specified [RCV004418738]uncertain significance88615150086151500Humanname
407528228CV3489068single nucleotide variantNM_152565.1(ATP6V0D2):c.946G>A (p.Ala316Thr)not specified [RCV004680307]uncertain significance88615287086152870Humanname
407528238CV3489071single nucleotide variantNM_152565.1(ATP6V0D2):c.792G>T (p.Met264Ile)not specified [RCV004680310]uncertain significance88615026486150264Humanname
407528256CV3489077single nucleotide variantNM_152565.1(ATP6V0D2):c.947C>A (p.Ala316Glu)not specified [RCV004680315]uncertain significance88615287186152871Humanname
597800784CV3610744single nucleotide variantNM_152565.1(ATP6V0D2):c.424A>G (p.Asn142Asp)not specified [RCV004880391]uncertain significance88613957886139578Humanname
597800806CV3610754single nucleotide variantNM_152565.1(ATP6V0D2):c.897A>T (p.Gln299His)not specified [RCV004880401]uncertain significance88615282186152821Humanname
597800812CV3610764single nucleotide variantNM_152565.1(ATP6V0D2):c.625T>C (p.Cys209Arg)not specified [RCV004880404]uncertain significance88614294086142940Humanname
597800854CV3610802single nucleotide variantNM_152565.1(ATP6V0D2):c.673C>G (p.Leu225Val)not specified [RCV004880424]uncertain significance88615014586150145Humanname
597800874CV3610812single nucleotide variantNM_152565.1(ATP6V0D2):c.841G>A (p.Val281Ile)not specified [RCV004880433]uncertain significance88615149086151490Humanname
597800912CV3610831single nucleotide variantNM_152565.1(ATP6V0D2):c.473C>T (p.Thr158Met)not specified [RCV004880451]uncertain significance88613962786139627Humanname
597801026CV3610840single nucleotide variantNM_152565.1(ATP6V0D2):c.599A>T (p.His200Leu)not specified [RCV004880460]uncertain significance88614291486142914Humanname
598198037CV3924321single nucleotide variantNM_152565.1(ATP6V0D2):c.649G>T (p.Asp217Tyr)not specified [RCV005289666]uncertain significance88615012186150121Humanname
598176762CV3924332single nucleotide variantNM_152565.1(ATP6V0D2):c.833T>A (p.Phe278Tyr)not specified [RCV005285701]uncertain significance88615148286151482Humanname
598198210CV3924350single nucleotide variantNM_152565.1(ATP6V0D2):c.692A>G (p.Glu231Gly)not specified [RCV005289686]uncertain significance88615016486150164Humanname
15188033CV723198single nucleotide variantNM_152565.1(ATP6V0D2):c.918C>A (p.Asn306Lys)not provided [RCV000887418]likely benign88615284286152842Humanname
8633120CV88333single nucleotide variantNM_152565.1(ATP6V0D2):c.727A>G (p.Thr243Ala)Malignant melanoma [RCV000068425]not provided88615019986150199Humanname
8633121CV88334single nucleotide variantNM_152565.1(ATP6V0D2):c.808C>T (p.His270Tyr)Malignant melanoma [RCV000068426]not provided88615028086150280Humanname
156102153CV2291463single nucleotide variantNM_152565.1(ATP6V0D2):c.1022C>T (p.Thr341Ile)not specified [RCV004155784]uncertain significance88615294686152946Humanname