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Variants search result for Homo sapiens
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55 records found for search term Eme1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597684524CV3667667single nucleotide variantNM_152463.4(EME1):c.1113-6C>Tnot specified [RCV004914665]likely benign175037910150379101Humanname
598191998CV3957910single nucleotide variantNM_152463.4(EME1):c.1113-8T>Cnot specified [RCV005334929]uncertain significance175037909950379099Humanname
405754393CV3248767single nucleotide variantNM_152463.4(EME1):c.1113-24C>Gnot specified [RCV004382454]uncertain significance175037908350379083Humanname
15163768CV727271single nucleotide variantNM_152463.4(EME1):c.15G>T (p.Lys5Asn)not provided [RCV000882045]benign175037522350375223Humanname
401778906CV2705871single nucleotide variantNM_152463.4(EME1):c.71C>G (p.Ala24Gly)not specified [RCV004320483]uncertain significance175037527950375279Humanname
598191978CV3957907single nucleotide variantNM_152463.4(EME1):c.65C>T (p.Thr22Ile)not specified [RCV005334926]uncertain significance175037527350375273Humanname
156328053CV2332196single nucleotide variantNM_152463.4(EME1):c.197C>T (p.Pro66Leu)not specified [RCV004189231]uncertain significance175037540550375405Humanname
156285016CV2360737single nucleotide variantNM_152463.4(EME1):c.119G>A (p.Arg40Lys)not specified [RCV004213523]uncertain significance175037532750375327Humanname
156268925CV2398519single nucleotide variantNM_152463.4(EME1):c.124G>A (p.Glu42Lys)not specified [RCV004237839]uncertain significance175037533250375332Humanname
401775859CV2692515single nucleotide variantNM_152463.4(EME1):c.268G>A (p.Glu90Lys)not specified [RCV004312265]uncertain significance175037547650375476Humanname
405754432CV3248772single nucleotide variantNM_152463.4(EME1):c.202C>G (p.Pro68Ala)not specified [RCV004382459]uncertain significance175037541050375410Humanname
597684543CV3667669single nucleotide variantNM_152463.4(EME1):c.196C>G (p.Pro66Ala)not specified [RCV004914667]uncertain significance175037540450375404Humanname
597684572CV3667672single nucleotide variantNM_152463.4(EME1):c.131T>C (p.Ile44Thr)not specified [RCV004914670]uncertain significance175037533950375339Humanname
598191991CV3957909single nucleotide variantNM_152463.4(EME1):c.287T>C (p.Leu96Pro)not specified [RCV005334928]uncertain significance175037549550375495Humanname
155982168CV2208697single nucleotide variantNM_152463.4(EME1):c.524C>T (p.Thr175Ile)not specified [RCV004084892]uncertain significance175037573250375732Humanname
156185905CV2236086single nucleotide variantNM_152463.4(EME1):c.331A>C (p.Ser111Arg)not specified [RCV004114241]uncertain significance175037553950375539Humanname
155918979CV2254774single nucleotide variantNM_152463.4(EME1):c.766C>G (p.Leu256Val)not specified [RCV004115243]uncertain significance175037597450375974Humanname
156191988CV2255316single nucleotide variantNM_152463.4(EME1):c.851C>T (p.Ala284Val)not specified [RCV004117693]likely benign175037614150376141Humanname
155946060CV2301466single nucleotide variantNM_152463.4(EME1):c.317C>A (p.Thr106Asn)not specified [RCV004162394]uncertain significance175037552550375525Humanname
156261536CV2381365single nucleotide variantNM_152463.4(EME1):c.380A>G (p.Asn127Ser)not specified [RCV004227419]uncertain significance175037558850375588Humanname
329353903CV2436602single nucleotide variantNM_152463.4(EME1):c.845T>C (p.Ile282Thr)not provided [RCV004696361]|not specified [RCV004257982]uncertain significance175037613550376135Humanname
401752740CV2682921single nucleotide variantNM_152463.4(EME1):c.451C>T (p.Pro151Ser)not specified [RCV004283715]likely benign175037565950375659Humanname
401741777CV2697626single nucleotide variantNM_152463.4(EME1):c.934G>A (p.Val312Ile)not specified [RCV004298372]uncertain significance175037862550378625Humanname
401862695CV2768657single nucleotide variantNM_152463.4(EME1):c.754A>G (p.Ile252Val)not specified [RCV004344506]likely benign175037596250375962Humanname
401891528CV2780506single nucleotide variantNM_152463.4(EME1):c.896C>T (p.Pro299Leu)not specified [RCV004358197]likely benign175037618650376186Humanname
405754438CV3248773single nucleotide variantNM_152463.4(EME1):c.457A>G (p.Arg153Gly)not specified [RCV004382460]uncertain significance175037566550375665Humanname
405754443CV3248774single nucleotide variantNM_152463.4(EME1):c.602C>T (p.Pro201Leu)not specified [RCV004382461]uncertain significance175037581050375810Humanname
405754449CV3248775single nucleotide variantNM_152463.4(EME1):c.704C>T (p.Ala235Val)not specified [RCV004382462]uncertain significance175037591250375912Humanname
405754457CV3248776single nucleotide variantNM_152463.4(EME1):c.863C>T (p.Pro288Leu)not specified [RCV004382463]uncertain significance175037615350376153Humanname
407506877CV3434902single nucleotide variantNM_152463.4(EME1):c.324G>C (p.Lys108Asn)not specified [RCV004624877]uncertain significance175037553250375532Humanname
597684581CV3667673single nucleotide variantNM_152463.4(EME1):c.545G>A (p.Ser182Asn)not specified [RCV004914671]uncertain significance175037575350375753Humanname
597684591CV3667674single nucleotide variantNM_152463.4(EME1):c.971T>C (p.Met324Thr)not specified [RCV004914672]uncertain significance175037866250378662Humanname
598191985CV3957908single nucleotide variantNM_152463.4(EME1):c.543C>A (p.Ser181Arg)not specified [RCV005334927]uncertain significance175037575150375751Humanname
598192004CV3957911single nucleotide variantNM_152463.4(EME1):c.962T>G (p.Phe321Cys)not specified [RCV005334930]uncertain significance175037865350378653Humanname
156339012CV2225023single nucleotide variantNM_152463.4(EME1):c.1256C>T (p.Thr419Ile)not specified [RCV004094854]uncertain significance175037947750379477Humanname
155926438CV2230616single nucleotide variantNM_152463.4(EME1):c.1634T>C (p.Ile545Thr)not specified [RCV004097573]uncertain significance175038086050380860Humanname
156297575CV2240870single nucleotide variantNM_152463.4(EME1):c.1303T>C (p.Phe435Leu)not specified [RCV004102159]uncertain significance175037952450379524Humanname
155903344CV2301622single nucleotide variantNM_152463.4(EME1):c.1276G>A (p.Val426Met)not specified [RCV004162527]uncertain significance175037949750379497Humanname
156137132CV2357315single nucleotide variantNM_152463.4(EME1):c.1493G>A (p.Ser498Asn)not specified [RCV004200207]uncertain significance175038045850380458Humanname
156385949CV2364613single nucleotide variantNM_152463.4(EME1):c.1267G>A (p.Ala423Thr)not specified [RCV004219507]uncertain significance175037948850379488Humanname
156044537CV2381640single nucleotide variantNM_152463.4(EME1):c.1362A>C (p.Glu454Asp)not specified [RCV004232111]uncertain significance175038032750380327Humanname
156147056CV2381830single nucleotide variantNM_152463.4(EME1):c.1591C>G (p.Gln531Glu)not specified [RCV004232273]uncertain significance175038081750380817Humanname
329377507CV2451800single nucleotide variantNM_152463.4(EME1):c.1595T>G (p.Val532Gly)not specified [RCV004276484]uncertain significance175038082150380821Humanname
401749067CV2694560single nucleotide variantNM_152463.4(EME1):c.1606G>A (p.Glu536Lys)not specified [RCV004298685]uncertain significance175038083250380832Humanname
405754385CV3248766single nucleotide variantNM_152463.4(EME1):c.1000G>A (p.Asp334Asn)not specified [RCV004382453]uncertain significance175037878350378783Humanname
405754400CV3248768single nucleotide variantNM_152463.4(EME1):c.1459C>G (p.Gln487Glu)not specified [RCV004382455]uncertain significance175038042450380424Humanname
405754408CV3248769single nucleotide variantNM_152463.4(EME1):c.1556C>T (p.Ser519Leu)not specified [RCV004382456]uncertain significance175038078250380782Humanname
405754414CV3248770single nucleotide variantNM_152463.4(EME1):c.1627C>T (p.Arg543Cys)not specified [RCV004382457]uncertain significance175038085350380853Humanname
405754423CV3248771single nucleotide variantNM_152463.4(EME1):c.1655G>T (p.Arg552Leu)not specified [RCV004382458]uncertain significance175038088150380881Humanname
597684515CV3667666single nucleotide variantNM_152463.4(EME1):c.1697T>C (p.Leu566Ser)not specified [RCV004914664]uncertain significance175038092350380923Humanname
597684532CV3667668single nucleotide variantNM_152463.4(EME1):c.1214G>C (p.Arg405Thr)not specified [RCV004914666]uncertain significance175037920850379208Humanname
597684551CV3667670single nucleotide variantNM_152463.4(EME1):c.1430G>A (p.Gly477Glu)not specified [RCV004914668]uncertain significance175038039550380395Humanname
597684563CV3667671single nucleotide variantNM_152463.4(EME1):c.1646T>C (p.Leu549Pro)not specified [RCV004914669]uncertain significance175038087250380872Humanname
597747109CV3667676single nucleotide variantNM_152463.4(EME1):c.1001A>G (p.Asp334Gly)not specified [RCV004922835]likely benign175037878450378784Humanname
598191970CV3957906single nucleotide variantNM_152463.4(EME1):c.1165A>C (p.Lys389Gln)not specified [RCV005334925]uncertain significance175037915950379159Humanname