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98 records found for search term Adprh
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155939945CV2221871single nucleotide variantNM_001125.4(ADPRH):c.22A>T (p.Met8Leu)not specified [RCV004102893]uncertain significance3119582191119582191Humanname
597677217CV3652560single nucleotide variantNM_001125.4(ADPRH):c.24G>A (p.Met8Ile)not specified [RCV004913859]uncertain significance3119582193119582193Humanname
597677237CV3652563single nucleotide variantNM_001125.4(ADPRH):c.53G>A (p.Gly18Glu)not specified [RCV004913861]uncertain significance3119582222119582222Humanname
598263064CV3959967single nucleotide variantNM_001125.4(ADPRH):c.97A>G (p.Ile33Val)not specified [RCV005325569]uncertain significance3119582266119582266Humanname
155928142CV2346477single nucleotide variantNM_001125.4(ADPRH):c.242A>G (p.Tyr81Cys)not specified [RCV004206401]uncertain significance3119582411119582411Humanname
156138283CV2374207single nucleotide variantNM_001125.4(ADPRH):c.239A>G (p.Tyr80Cys)not specified [RCV004229351]uncertain significance3119582408119582408Humanname
401887155CV2775672single nucleotide variantNM_001125.4(ADPRH):c.191C>T (p.Ala64Val)not specified [RCV004350810]uncertain significance3119582360119582360Humanname
407506229CV3434484single nucleotide variantNM_001125.4(ADPRH):c.253A>G (p.Lys85Glu)not specified [RCV004624633]uncertain significance3119582422119582422Humanname
597677192CV3652557single nucleotide variantNM_001125.4(ADPRH):c.209C>G (p.Ala70Gly)not specified [RCV004913857]uncertain significance3119582378119582378Humanname
156234114CV2197173single nucleotide variantNM_001125.4(ADPRH):c.479G>A (p.Arg160Gln)not specified [RCV004071594]uncertain significance3119586465119586465Humanname
155924076CV2280456single nucleotide variantNM_001125.4(ADPRH):c.418C>T (p.Leu140Phe)not specified [RCV004140626]uncertain significance3119586404119586404Humanname
155905260CV2298957single nucleotide variantNM_001125.4(ADPRH):c.790T>C (p.Ser264Pro)not specified [RCV004156485]uncertain significance3119587594119587594Humanname
156059529CV2391762single nucleotide variantNM_001125.4(ADPRH):c.706A>G (p.Ile236Val)not specified [RCV004235644]uncertain significance3119587510119587510Humanname
329372526CV2443152single nucleotide variantNM_001125.4(ADPRH):c.831T>G (p.Ile277Met)not specified [RCV004255347]uncertain significance3119587635119587635Humanname
329394463CV2469884single nucleotide variantNM_001125.4(ADPRH):c.490C>G (p.His164Asp)not specified [RCV004285356]uncertain significance3119586476119586476Humanname
401862822CV2755447single nucleotide variantNM_001125.4(ADPRH):c.415G>C (p.Gly139Arg)not specified [RCV004340038]uncertain significance3119586401119586401Humanname
401873972CV2773618single nucleotide variantNM_001125.4(ADPRH):c.844G>A (p.Val282Ile)not specified [RCV004356313]likely benign3119587648119587648Humanname
405741496CV3259485single nucleotide variantNM_001125.4(ADPRH):c.399G>A (p.Met133Ile)not specified [RCV004380623]uncertain significance3119586385119586385Humanname
405741649CV3259506single nucleotide variantNM_001125.4(ADPRH):c.763G>C (p.Asp255His)not specified [RCV004380644]uncertain significance3119587567119587567Humanname
405741754CV3259521single nucleotide variantNM_001125.4(ADPRH):c.873G>T (p.Glu291Asp)not specified [RCV004380659]uncertain significance3119587677119587677Humanname
405741774CV3259524single nucleotide variantNM_001125.4(ADPRH):c.877G>A (p.Ala293Thr)not specified [RCV004380662]uncertain significance3119587681119587681Humanname
407506260CV3434496single nucleotide variantNM_001125.4(ADPRH):c.308C>T (p.Ser103Leu)not specified [RCV004624645]uncertain significance3119586294119586294Humanname
407506321CV3434515single nucleotide variantNM_001125.4(ADPRH):c.886G>A (p.Ala296Thr)not specified [RCV004624664]uncertain significance3119587690119587690Humanname
597677168CV3652554single nucleotide variantNM_001125.4(ADPRH):c.896A>T (p.His299Leu)not specified [RCV004913855]uncertain significance3119587700119587700Humanname
597677180CV3652556single nucleotide variantNM_001125.4(ADPRH):c.347A>G (p.Asn116Ser)not specified [RCV004913856]uncertain significance3119586333119586333Humanname
597677203CV3652558single nucleotide variantNM_001125.4(ADPRH):c.572G>C (p.Trp191Ser)not specified [RCV004913858]uncertain significance3119586558119586558Humanname
597677228CV3652561single nucleotide variantNM_001125.4(ADPRH):c.544G>A (p.Ala182Thr)not specified [RCV004913860]uncertain significance3119586530119586530Humanname
598263127CV3959992single nucleotide variantNM_001125.4(ADPRH):c.467T>C (p.Ile156Thr)not specified [RCV005325592]uncertain significance3119586453119586453Humanname
598263146CV3960000single nucleotide variantNM_001125.4(ADPRH):c.542A>C (p.Tyr181Ser)not specified [RCV005325598]uncertain significance3119586528119586528Humanname
598263184CV3960010single nucleotide variantNM_001125.4(ADPRH):c.1010T>G (p.Leu337Arg)not specified [RCV005325608]uncertain significance3119587814119587814Humanname
401934138CV2814095single nucleotide variantNM_001394807.1(ADPRHL1):c.120C>T (p.Ser40=)not provided [RCV003411021]likely benign13113453318113453318Humanname
15180283CV713851single nucleotide variantNM_001394807.1(ADPRHL1):c.147G>A (p.Ser49=)not provided [RCV000974113]benign13113453291113453291Humanname
15117761CV738976single nucleotide variantNM_001394807.1(ADPRHL1):c.20C>T (p.Ala7Val)not provided [RCV000895433]benign13113453418113453418Humanname
155956507CV2281929single nucleotide variantNM_001394807.1(ADPRHL1):c.91A>C (p.Met31Leu)not specified [RCV004138703]uncertain significance13113453347113453347Humanname
401876179CV2777691single nucleotide variantNM_001394807.1(ADPRHL1):c.40G>A (p.Gly14Ser)not specified [RCV004343526]uncertain significance13113453398113453398Humanname
401897002CV2785488single nucleotide variantNM_001394807.1(ADPRHL1):c.37G>A (p.Val13Ile)not specified [RCV004363016]uncertain significance13113453401113453401Humanname
401915180CV2814094single nucleotide variantNM_001394807.1(ADPRHL1):c.387G>T (p.Gly129=)not provided [RCV003400542]likely benign13113433860113433860Humanname
407506351CV3434525single nucleotide variantNM_001394807.1(ADPRHL1):c.92T>C (p.Met31Thr)not specified [RCV004624674]uncertain significance13113453346113453346Humanname
598263235CV3960030single nucleotide variantNM_001394807.1(ADPRHL1):c.31G>A (p.Gly11Arg)not specified [RCV005325627]uncertain significance13113453407113453407Humanname
15197548CV725401single nucleotide variantNM_001394807.1(ADPRHL1):c.846C>T (p.Asp282=)not provided [RCV000890089]benign13113424278113424278Humanname
156282453CV2334586single nucleotide variantNM_001394807.1(ADPRHL1):c.163G>A (p.Val55Met)not specified [RCV004188575]uncertain significance13113453275113453275Humanname
156348346CV2384938single nucleotide variantNM_001394807.1(ADPRHL1):c.199G>A (p.Glu67Lys)not specified [RCV004226175]uncertain significance13113453239113453239Humanname
401855973CV2754180single nucleotide variantNM_001394807.1(ADPRHL1):c.242G>A (p.Arg81Gln)not specified [RCV004334370]uncertain significance13113444562113444562Humanname
401865803CV2755643single nucleotide variantNM_001394807.1(ADPRHL1):c.116G>A (p.Arg39His)not specified [RCV004342028]uncertain significance13113453322113453322Humanname
401887903CV2768827single nucleotide variantNM_001394807.1(ADPRHL1):c.172A>C (p.Asn58His)not specified [RCV004346951]uncertain significance13113453266113453266Humanname
401867649CV2780709single nucleotide variantNM_001394807.1(ADPRHL1):c.146C>T (p.Ser49Leu)not specified [RCV004352048]uncertain significance13113453292113453292Humanname
401934137CV2814090single nucleotide variantNM_001394807.1(ADPRHL1):c.2907G>A (p.Arg969=)not provided [RCV003411020]likely benign13113406375113406375Humanname
401915175CV2814092single nucleotide variantNM_001394807.1(ADPRHL1):c.1104C>T (p.Asp368=)not provided [RCV003400540]likely benign13113408178113408178Humanname
407488148CV3434536single nucleotide variantNM_001394807.1(ADPRHL1):c.293G>A (p.Arg98Gln)not specified [RCV004619687]uncertain significance13113444511113444511Humanname
597677258CV3652567single nucleotide variantNM_001394807.1(ADPRHL1):c.289C>T (p.Arg97Cys)not specified [RCV004913863]uncertain significance13113444515113444515Humanname
597677266CV3652568single nucleotide variantNM_001394807.1(ADPRHL1):c.271G>A (p.Val91Ile)not specified [RCV004913864]uncertain significance13113444533113444533Humanname
597677341CV3652604single nucleotide variantNM_001394807.1(ADPRHL1):c.292C>T (p.Arg98Trp)not specified [RCV004913871]uncertain significance13113444512113444512Humanname
15178646CV713850single nucleotide variantNM_001394807.1(ADPRHL1):c.158G>A (p.Trp53Ter)not provided [RCV000973716]likely benign13113453280113453280Humanname
156254894CV2203333single nucleotide variantNM_001394807.1(ADPRHL1):c.820C>A (p.His274Asn)not specified [RCV004072565]uncertain significance13113424304113424304Humanname
156020486CV2230369single nucleotide variantNM_001394807.1(ADPRHL1):c.424C>T (p.Arg142Trp)not specified [RCV004099965]uncertain significance13113433823113433823Humanname
156197645CV2237327single nucleotide variantNM_001394807.1(ADPRHL1):c.442C>T (p.Arg148Trp)not specified [RCV004104526]uncertain significance13113433805113433805Humanname
156059950CV2239393single nucleotide variantNM_001394807.1(ADPRHL1):c.547G>A (p.Ala183Thr)not specified [RCV004114126]uncertain significance13113429051113429051Humanname
156161430CV2246399single nucleotide variantNM_001394807.1(ADPRHL1):c.871T>C (p.Trp291Arg)not specified [RCV004108131]uncertain significance13113424253113424253Humanname
155907473CV2276420single nucleotide variantNM_001394807.1(ADPRHL1):c.481C>T (p.Arg161Trp)not specified [RCV004144147]uncertain significance13113433766113433766Humanname
156346347CV2305277single nucleotide variantNM_001394807.1(ADPRHL1):c.614A>T (p.Glu205Val)not specified [RCV004171198]uncertain significance13113428984113428984Humanname
156045197CV2308062single nucleotide variantNM_001394807.1(ADPRHL1):c.992A>G (p.Gln331Arg)not specified [RCV004170487]uncertain significance13113422895113422895Humanname
156110004CV2355544single nucleotide variantNM_001394807.1(ADPRHL1):c.425G>A (p.Arg142Gln)not specified [RCV004205392]uncertain significance13113433822113433822Humanname
156054677CV2361264single nucleotide variantNM_001394807.1(ADPRHL1):c.443G>A (p.Arg148Gln)not specified [RCV004218482]uncertain significance13113433804113433804Humanname
156090070CV2392147single nucleotide variantNM_001394807.1(ADPRHL1):c.478G>A (p.Gly160Ser)not specified [RCV004238039]uncertain significance13113433769113433769Humanname
329364871CV2443997single nucleotide variantNM_001394807.1(ADPRHL1):c.767G>A (p.Arg256Lys)not specified [RCV004258321]uncertain significance13113425059113425059Humanname
329367620CV2456953single nucleotide variantNM_001394807.1(ADPRHL1):c.601C>A (p.Pro201Thr)not specified [RCV004270895]uncertain significance13113428997113428997Humanname
401719520CV2679561single nucleotide variantNM_001394807.1(ADPRHL1):c.395C>T (p.Ala132Val)not specified [RCV004287862]uncertain significance13113433852113433852Humanname
401755244CV2682424single nucleotide variantNM_001394807.1(ADPRHL1):c.889C>T (p.Arg297Trp)not specified [RCV004290452]uncertain significance13113424235113424235Humanname
401915169CV2814088single nucleotide variantNM_001394807.1(ADPRHL1):c.5046A>G (p.Lys1682=)not provided [RCV003400538]uncertain significance13113404236113404236Humanname
401934136CV2814089single nucleotide variantNM_001394807.1(ADPRHL1):c.3825C>T (p.Ser1275=)not provided [RCV003411019]likely benign13113405457113405457Humanname
405742027CV3259585single nucleotide variantNM_001394807.1(ADPRHL1):c.576G>C (p.Trp192Cys)not specified [RCV004380723]uncertain significance13113429022113429022Humanname
405742045CV3259588single nucleotide variantNM_001394807.1(ADPRHL1):c.593G>A (p.Arg198Gln)not specified [RCV004380726]uncertain significance13113429005113429005Humanname
405742284CV3259599single nucleotide variantNM_001394807.1(ADPRHL1):c.827C>A (p.Ala276Asp)not specified [RCV004380737]uncertain significance13113424297113424297Humanname
405742319CV3259604single nucleotide variantNM_001394807.1(ADPRHL1):c.832A>G (p.Met278Val)not specified [RCV004380742]uncertain significance13113424292113424292Humanname
405742397CV3259615single nucleotide variantNM_001394807.1(ADPRHL1):c.890G>A (p.Arg297Gln)not specified [RCV004380753]uncertain significance13113424234113424234Humanname
407488213CV3434547single nucleotide variantNM_001394807.1(ADPRHL1):c.620G>C (p.Cys207Ser)not specified [RCV004619698]uncertain significance13113428978113428978Humanname
407488321CV3434567single nucleotide variantNM_001394807.1(ADPRHL1):c.634C>G (p.Arg212Gly)not specified [RCV004619718]uncertain significance13113428964113428964Humanname
597677248CV3652565single nucleotide variantNM_001394807.1(ADPRHL1):c.815G>A (p.Arg272Gln)not specified [RCV004913862]uncertain significance13113424309113424309Humanname
597677279CV3652569single nucleotide variantNM_001394807.1(ADPRHL1):c.823G>A (p.Asp275Asn)not specified [RCV004913865]uncertain significance13113424301113424301Humanname
597677290CV3652576single nucleotide variantNM_001394807.1(ADPRHL1):c.602C>T (p.Pro201Leu)not specified [RCV004913866]uncertain significance13113428996113428996Humanname
597677299CV3652582single nucleotide variantNM_001394807.1(ADPRHL1):c.919G>A (p.Ala307Thr)not specified [RCV004913867]uncertain significance13113422968113422968Humanname
597677309CV3652587single nucleotide variantNM_001394807.1(ADPRHL1):c.547G>T (p.Ala183Ser)not specified [RCV004913868]uncertain significance13113429051113429051Humanname
597677350CV3652609single nucleotide variantNM_001394807.1(ADPRHL1):c.853C>G (p.Leu285Val)not specified [RCV004913872]uncertain significance13113424271113424271Humanname
597677360CV3652616single nucleotide variantNM_001394807.1(ADPRHL1):c.682T>C (p.Trp228Arg)not specified [RCV004913873]uncertain significance13113425144113425144Humanname
597677369CV3652623single nucleotide variantNM_001394807.1(ADPRHL1):c.956T>C (p.Leu319Pro)not specified [RCV004913874]uncertain significance13113422931113422931Humanname
598128251CV3887450single nucleotide variantNM_001394807.1(ADPRHL1):c.5142A>G (p.Glu1714=)not provided [RCV005243623]likely benign13113404140113404140Humanname
598263208CV3960020single nucleotide variantNM_001394807.1(ADPRHL1):c.554A>G (p.Gln185Arg)not specified [RCV005325617]uncertain significance13113429044113429044Humanname
598263253CV3960038single nucleotide variantNM_001394807.1(ADPRHL1):c.835A>G (p.Ile279Val)not specified [RCV005325635]uncertain significance13113424289113424289Humanname
156334275CV2214744single nucleotide variantNM_001394807.1(ADPRHL1):c.1031C>T (p.Ala344Val)not specified [RCV004090554]uncertain significance13113422856113422856Humanname
156300242CV2248784single nucleotide variantNM_001394807.1(ADPRHL1):c.1060A>G (p.Asn354Asp)not specified [RCV004121935]uncertain significance13113422827113422827Humanname
401753956CV2719123single nucleotide variantNM_001394807.1(ADPRHL1):c.1010A>G (p.Glu337Gly)not specified [RCV004324791]uncertain significance13113422877113422877Humanname
401915171CV2814091single nucleotide variantNM_001394807.1(ADPRHL1):c.1665C>A (p.Phe555Leu)not provided [RCV003400539]likely benign13113407617113407617Humanname
401915177CV2814093single nucleotide variantNM_001394807.1(ADPRHL1):c.1030G>A (p.Ala344Thr)not provided [RCV003400541]likely benign13113422857113422857Humanname
405742205CV3259530single nucleotide variantNM_001394807.1(ADPRHL1):c.1021G>T (p.Asp341Tyr)not specified [RCV004380668]uncertain significance13113422866113422866Humanname
407488267CV3434556single nucleotide variantNM_001394807.1(ADPRHL1):c.1042C>T (p.Arg348Cys)not specified [RCV004619707]uncertain significance13113422845113422845Humanname
597677322CV3652591single nucleotide variantNM_001394807.1(ADPRHL1):c.1003G>A (p.Asp335Asn)not specified [RCV004913869]uncertain significance13113422884113422884Humanname
597677331CV3652597single nucleotide variantNM_001394807.1(ADPRHL1):c.1043G>C (p.Arg348Pro)not specified [RCV004913870]uncertain significance13113422844113422844Humanname
151663242CV1331009deletionNM_017825.3(ADPRS):c.340_341del (p.Arg114fs)ADPRHL2-related disorder [RCV001825182]|not provided [RCV004720951]pathogenic|not provided13609164936091650Human1trait