Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


49 records found for search term Sdr42e1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
407476746CV3476588single nucleotide variantNM_145168.3(SDR42E1):c.23A>C (p.Lys8Thr)not specified [RCV004663554]uncertain significance168200083682000836Humanname
156151024CV2197826single nucleotide variantNM_145168.3(SDR42E1):c.239C>T (p.Ala80Val)not specified [RCV004077064]uncertain significance168200005482000054Humanname
156149107CV2265327single nucleotide variantNM_145168.3(SDR42E1):c.250A>G (p.Met84Val)not specified [RCV004128218]uncertain significance168200004382000043Humanname
156186360CV2324724single nucleotide variantNM_145168.3(SDR42E1):c.231C>G (p.Phe77Leu)not specified [RCV004172963]uncertain significance168200006282000062Humanname
156346277CV2377980single nucleotide variantNM_145168.3(SDR42E1):c.275G>A (p.Arg92Gln)not specified [RCV004230541]uncertain significance168200001882000018Humanname
156168754CV2399179single nucleotide variantNM_145168.3(SDR42E1):c.175C>T (p.Arg59Cys)not specified [RCV004246610]uncertain significance168200011882000118Humanname
329388769CV2447847single nucleotide variantNM_145168.3(SDR42E1):c.176G>A (p.Arg59His)not specified [RCV004258619]uncertain significance168200011782000117Humanname
405703388CV3310534single nucleotide variantNM_145168.3(SDR42E1):c.190G>A (p.Val64Ile)not specified [RCV004447422]likely benign168200010382000103Humanname
405703396CV3310535single nucleotide variantNM_145168.3(SDR42E1):c.214G>C (p.Asp72His)not specified [RCV004447423]uncertain significance168200007982000079Humanname
597714410CV3605312single nucleotide variantNM_145168.3(SDR42E1):c.148G>A (p.Gly50Arg)not specified [RCV004861362]uncertain significance168200014582000145Humanname
597714440CV3605315single nucleotide variantNM_145168.3(SDR42E1):c.225T>G (p.Cys75Trp)not specified [RCV004861365]uncertain significance168200006882000068Humanname
155951126CV2238730single nucleotide variantNM_145168.3(SDR42E1):c.652A>G (p.Ser218Gly)not specified [RCV004107617]uncertain significance168199964181999641Humanname
156120939CV2275965single nucleotide variantNM_145168.3(SDR42E1):c.800G>A (p.Arg267Gln)not specified [RCV004139608]uncertain significance168199949381999493Humanname
156270366CV2315513single nucleotide variantNM_145168.3(SDR42E1):c.778G>C (p.Val260Leu)not specified [RCV004169564]uncertain significance168199951581999515Humanname
401742501CV2673799single nucleotide variantNM_145168.3(SDR42E1):c.425A>G (p.Tyr142Cys)not specified [RCV004293183]uncertain significance168199986881999868Humanname
401729806CV2683803single nucleotide variantNM_145168.3(SDR42E1):c.302G>C (p.Arg101Thr)not specified [RCV004284533]uncertain significance168199999181999991Humanname
401746704CV2691965single nucleotide variantNM_145168.3(SDR42E1):c.611T>C (p.Ile204Thr)not specified [RCV004301695]uncertain significance168199968281999682Humanname
401774765CV2713629single nucleotide variantNM_145168.3(SDR42E1):c.787T>A (p.Phe263Ile)not specified [RCV004321002]uncertain significance168199950681999506Humanname
401774768CV2713630single nucleotide variantNM_145168.3(SDR42E1):c.788T>C (p.Phe263Ser)not specified [RCV004321003]uncertain significance168199950581999505Humanname
401771580CV2722878single nucleotide variantNM_145168.3(SDR42E1):c.643G>T (p.Asp215Tyr)not specified [RCV004327073]uncertain significance168199965081999650Humanname
401858077CV2759564single nucleotide variantNM_145168.3(SDR42E1):c.353T>C (p.Leu118Ser)not specified [RCV004338543]uncertain significance168199994081999940Humanname
401894723CV2785130single nucleotide variantNM_145168.3(SDR42E1):c.733C>T (p.His245Tyr)not specified [RCV004355134]uncertain significance168199956081999560Humanname
405703402CV3310536single nucleotide variantNM_145168.3(SDR42E1):c.436C>A (p.His146Asn)not specified [RCV004447424]uncertain significance168199985781999857Humanname
405703412CV3310537single nucleotide variantNM_145168.3(SDR42E1):c.501T>G (p.Asn167Lys)not specified [RCV004447425]uncertain significance168199979281999792Humanname
405703421CV3310538single nucleotide variantNM_145168.3(SDR42E1):c.634G>A (p.Val212Ile)not specified [RCV004447426]uncertain significance168199965981999659Humanname
405703430CV3310539single nucleotide variantNM_145168.3(SDR42E1):c.745G>A (p.Gly249Arg)not specified [RCV004447427]uncertain significance168199954881999548Humanname
405703438CV3310540single nucleotide variantNM_145168.3(SDR42E1):c.875T>C (p.Phe292Ser)not specified [RCV004447428]uncertain significance168199941881999418Humanname
407476733CV3476585single nucleotide variantNM_145168.3(SDR42E1):c.914A>G (p.Tyr305Cys)not specified [RCV004663551]uncertain significance168199937981999379Humanname
407476737CV3476586single nucleotide variantNM_145168.3(SDR42E1):c.727A>G (p.Lys243Glu)not specified [RCV004663552]uncertain significance168199956681999566Humanname
407476741CV3476587single nucleotide variantNM_145168.3(SDR42E1):c.649A>G (p.Arg217Gly)not specified [RCV004663553]uncertain significance168199964481999644Humanname
597714391CV3605310single nucleotide variantNM_145168.3(SDR42E1):c.398T>C (p.Ile133Thr)not specified [RCV004861360]uncertain significance168199989581999895Humanname
597714401CV3605311single nucleotide variantNM_145168.3(SDR42E1):c.799C>T (p.Arg267Trp)not specified [RCV004861361]uncertain significance168199949481999494Humanname
597714421CV3605313single nucleotide variantNM_145168.3(SDR42E1):c.598A>G (p.Ile200Val)not specified [RCV004861363]uncertain significance168199969581999695Humanname
597714432CV3605314single nucleotide variantNM_145168.3(SDR42E1):c.760A>G (p.Ile254Val)not specified [RCV004861364]uncertain significance168199953381999533Humanname
597714452CV3605316single nucleotide variantNM_145168.3(SDR42E1):c.449A>G (p.Asp150Gly)not specified [RCV004861366]uncertain significance168199984481999844Humanname
597714460CV3605317single nucleotide variantNM_145168.3(SDR42E1):c.553C>A (p.Pro185Thr)not specified [RCV004861367]uncertain significance168199974081999740Humanname
598209880CV3907036single nucleotide variantNM_145168.3(SDR42E1):c.490C>G (p.Leu164Val)not specified [RCV005270587]uncertain significance168199980381999803Humanname
598209888CV3907037single nucleotide variantNM_145168.3(SDR42E1):c.713C>T (p.Ala238Val)not specified [RCV005270588]uncertain significance168199958081999580Humanname
598209895CV3907038single nucleotide variantNM_145168.3(SDR42E1):c.949T>G (p.Tyr317Asp)not specified [RCV005270589]uncertain significance168199934481999344Humanname
598209903CV3907039single nucleotide variantNM_145168.3(SDR42E1):c.409G>C (p.Asp137His)not specified [RCV005270590]uncertain significance168199988481999884Humanname
8635928CV91151single nucleotide variantNM_145168.2(SDR42E1):c.568G>A (p.Gly190Arg)Malignant melanoma [RCV000071249]not provided168199972581999725Humanname
156313709CV2257052single nucleotide variantNM_145168.3(SDR42E1):c.1172T>C (p.Leu391Pro)not specified [RCV004123021]uncertain significance168199912181999121Humanname
156161860CV2323486single nucleotide variantNM_145168.3(SDR42E1):c.1091C>T (p.Ser364Leu)not specified [RCV004165694]uncertain significance168199920281999202Humanname
156188622CV2342256single nucleotide variantNM_145168.3(SDR42E1):c.1000C>A (p.Leu334Ile)not specified [RCV004191829]uncertain significance168199929381999293Humanname
156002765CV2347719single nucleotide variantNM_145168.3(SDR42E1):c.1064A>G (p.His355Arg)not specified [RCV004200642]uncertain significance168199922981999229Humanname
156386731CV2364829single nucleotide variantNM_145168.3(SDR42E1):c.1153C>A (p.Leu385Met)not specified [RCV004219692]uncertain significance168199914081999140Humanname
401772037CV2712048single nucleotide variantNM_145168.3(SDR42E1):c.1111G>C (p.Gly371Arg)not specified [RCV004311467]uncertain significance168199918281999182Humanname
405703384CV3310533single nucleotide variantNM_145168.3(SDR42E1):c.1163C>T (p.Ser388Phe)not specified [RCV004447421]uncertain significance168199913081999130Humanname
598210875CV4008075insertionNM_145168.3(SDR42E1):c.*1075_*1076insCAAAAATAACCTAACTAGTGATAAAGTGTATATACTTTAAGAGCAcromesomelic dysplasia 4 [RCV005400389]uncertain significance168199803581998036Human1name