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100 records found for search term Erc1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401905799CV2810048single nucleotide variantNM_178040.4(ERC1):c.3214-1G>Anot provided [RCV003396107]uncertain significance1214900921490092Humanname
405279064CV3206826single nucleotide variantNM_178040.4(ERC1):c.2158-4G>AERC1-related disorder [RCV003919389]benign1211898551189855Humanname , trait , alternate_id
405293130CV3221232single nucleotide variantNM_178040.4(ERC1):c.1738-6A>CERC1-related disorder [RCV003966767]likely benign1211805341180534Humanname , trait , alternate_id
8653612CV130187single nucleotide variantNM_178039.3(ERC1):c.1653+2762A>TLung cancer [RCV000110674]uncertain significance1211445491144549Humanname
405275824CV3199453single nucleotide variantNM_178040.4(ERC1):c.3214-9201G>TERC1-related disorder [RCV003916857]likely benign1214808921480892Humanname , trait , alternate_id
405287833CV3217944single nucleotide variantNM_178040.4(ERC1):c.3214-9246C>TERC1-related disorder [RCV003982067]benign1214808471480847Humanname , trait , alternate_id
151352801CV1326065single nucleotide variantNM_178040.4(ERC1):c.297T>G (p.Pro99=)ERC1-related disorder [RCV003968566]|not provided [RCV001815735]likely benign1210282001028200Humanname , trait , alternate_id
401771349CV2675560single nucleotide variantNM_178040.4(ERC1):c.17G>A (p.Arg6His)not specified [RCV004295174]uncertain significance1210279201027920Humanname
405266301CV3201881single nucleotide variantNM_178040.4(ERC1):c.48G>C (p.Gln16His)ERC1-related disorder [RCV003911371]benign1210279511027951Humanname , trait , alternate_id
405284062CV3213560single nucleotide variantNM_178040.4(ERC1):c.300C>T (p.Tyr100=)ERC1-related disorder [RCV003922134]likely benign1210282031028203Humanname , trait , alternate_id
405740550CV3259372single nucleotide variantNM_178040.4(ERC1):c.64C>T (p.Pro22Ser)not specified [RCV004380510]uncertain significance1210279671027967Humanname
405740557CV3259373single nucleotide variantNM_178040.4(ERC1):c.85C>T (p.Arg29Cys)not specified [RCV004380511]uncertain significance1210279881027988Humanname
597804180CV3671456single nucleotide variantNM_178040.4(ERC1):c.58C>T (p.Arg20Cys)not specified [RCV004907564]uncertain significance1210279611027961Humanname
597804189CV3671464single nucleotide variantNM_178040.4(ERC1):c.38C>T (p.Pro13Leu)not specified [RCV004907568]uncertain significance1210279411027941Humanname
155991489CV2256453single nucleotide variantNM_178040.4(ERC1):c.125C>T (p.Ser42Leu)not specified [RCV004118668]uncertain significance1210280281028028Humanname
405275306CV3196248single nucleotide variantNM_178040.4(ERC1):c.2820C>T (p.Ala940=)ERC1-related disorder [RCV003974119]benign1213718721371872Humanname , trait , alternate_id
405275581CV3199385single nucleotide variantNM_178040.4(ERC1):c.148A>G (p.Ser50Gly)ERC1-related disorder [RCV003916797]benign1210280511028051Humanname , trait , alternate_id
405266804CV3211976single nucleotide variantNM_178040.4(ERC1):c.1026C>T (p.His342=)ERC1-related disorder [RCV003947239]likely benign1210835201083520Humanname , trait , alternate_id
405266889CV3218443single nucleotide variantNM_178040.4(ERC1):c.1527C>T (p.Ser509=)ERC1-related disorder [RCV003947262]benign1211159911115991Humanname , trait , alternate_id
405740529CV3259369single nucleotide variantNM_178040.4(ERC1):c.260G>T (p.Ser87Ile)not specified [RCV004380507]uncertain significance1210281631028163Humanname
597804182CV3671457single nucleotide variantNM_178040.4(ERC1):c.197A>C (p.Tyr66Ser)not specified [RCV004907565]uncertain significance1210281001028100Humanname
598170059CV3961665single nucleotide variantNM_178040.4(ERC1):c.284G>A (p.Gly95Glu)not specified [RCV005330621]uncertain significance1210281871028187Humanname
598170062CV3961666single nucleotide variantNM_178040.4(ERC1):c.158C>A (p.Thr53Asn)not specified [RCV005330622]uncertain significance1210280611028061Humanname
15199434CV702124single nucleotide variantNM_178040.4(ERC1):c.1179T>A (p.Ser393=)ERC1-related disorder [RCV003915928]|not provided [RCV000957037]benign1211102091110209Humanname , trait , alternate_id
156316934CV2250978single nucleotide variantNM_178040.4(ERC1):c.323G>A (p.Gly108Asp)not specified [RCV004123548]uncertain significance1210282261028226Humanname
156335795CV2333578single nucleotide variantNM_178040.4(ERC1):c.547A>G (p.Met183Val)not specified [RCV004190261]uncertain significance1210284501028450Humanname
156103933CV2352415single nucleotide variantNM_178040.4(ERC1):c.364A>G (p.Thr122Ala)not specified [RCV004200881]uncertain significance1210282671028267Humanname
329394906CV2457720single nucleotide variantNM_178040.4(ERC1):c.520G>A (p.Val174Ile)not specified [RCV004269562]uncertain significance1210284231028423Humanname
401750096CV2704980single nucleotide variantNM_178040.4(ERC1):c.809T>A (p.Leu270His)not specified [RCV004309587]uncertain significance1210833031083303Humanname
405261365CV3221502single nucleotide variantNM_178040.4(ERC1):c.308G>C (p.Arg103Pro)ERC1-related disorder [RCV003966976]likely benign1210282111028211Humanname , trait , alternate_id
407479653CV3441954single nucleotide variantNM_178040.4(ERC1):c.953G>A (p.Ser318Asn)not specified [RCV004617830]uncertain significance1210834471083447Humanname
407479674CV3441959single nucleotide variantNM_178040.4(ERC1):c.308G>A (p.Arg103Gln)not specified [RCV004617835]uncertain significance1210282111028211Humanname
407479678CV3441960single nucleotide variantNM_178040.4(ERC1):c.595G>A (p.Ala199Thr)not specified [RCV004617836]uncertain significance1210284981028498Humanname
597804176CV3671453single nucleotide variantNM_178040.4(ERC1):c.659A>C (p.Glu220Ala)not specified [RCV004907562]uncertain significance1210285621028562Humanname
598170047CV3961661single nucleotide variantNM_178040.4(ERC1):c.652G>T (p.Val218Leu)not specified [RCV005330617]uncertain significance1210285551028555Humanname
598170065CV3961667single nucleotide variantNM_178040.4(ERC1):c.820C>T (p.His274Tyr)not specified [RCV005330623]uncertain significance1210833141083314Humanname
598170069CV3961668single nucleotide variantNM_178040.4(ERC1):c.362A>G (p.Asp121Gly)not specified [RCV005330624]uncertain significance1210282651028265Humanname
598170075CV3961670single nucleotide variantNM_178040.4(ERC1):c.863T>G (p.Leu288Trp)not specified [RCV005330626]uncertain significance1210833571083357Humanname
155916378CV2197388single nucleotide variantNM_178040.4(ERC1):c.2278C>G (p.Arg760Gly)not specified [RCV004081127]uncertain significance1211899791189979Humanname
156320905CV2197440single nucleotide variantNM_178040.4(ERC1):c.1244G>A (p.Ser415Asn)not specified [RCV004081176]uncertain significance1211102741110274Humanname
156399639CV2202122single nucleotide variantNM_178040.4(ERC1):c.1880G>A (p.Arg627Gln)not specified [RCV004078076]uncertain significance1211819291181929Humanname
156069599CV2232232single nucleotide variantNM_178040.4(ERC1):c.1295A>G (p.His432Arg)not specified [RCV004105020]uncertain significance1211103251110325Humanname
155977986CV2246968single nucleotide variantNM_178040.4(ERC1):c.1175C>G (p.Ser392Cys)not specified [RCV004112757]uncertain significance1211102051110205Humanname
155994938CV2250291single nucleotide variantNM_178040.4(ERC1):c.1959T>A (p.Asp653Glu)not specified [RCV004127190]uncertain significance1211820081182008Humanname
156339586CV2271439single nucleotide variantNM_178040.4(ERC1):c.1784G>A (p.Ser595Asn)not specified [RCV004136543]uncertain significance1211805861180586Humanname
155965971CV2284144single nucleotide variantNM_178040.4(ERC1):c.2042A>G (p.His681Arg)not specified [RCV004144736]uncertain significance1211833061183306Humanname
156286169CV2292057single nucleotide variantNM_178040.4(ERC1):c.2122G>C (p.Glu708Gln)ERC1-related disorder [RCV003953999]|not specified [RCV004160332]likely benign|uncertain significance1211833861183386Humanname , trait , alternate_id
156250984CV2311262single nucleotide variantNM_178040.4(ERC1):c.2822A>G (p.Asn941Ser)not specified [RCV004166345]uncertain significance1213718741371874Humanname
156303746CV2341236single nucleotide variantNM_178040.4(ERC1):c.2803A>G (p.Ile935Val)not specified [RCV004186649]uncertain significance1213718551371855Humanname
329353884CV2439911single nucleotide variantNM_178040.4(ERC1):c.1102T>G (p.Phe368Val)not specified [RCV004257946]uncertain significance1211047651104765Humanname
329363593CV2442329single nucleotide variantNM_178040.4(ERC1):c.2365C>G (p.Gln789Glu)not specified [RCV004264802]uncertain significance1212367821236782Humanname
329392880CV2449355single nucleotide variantNM_178040.4(ERC1):c.2417A>G (p.Lys806Arg)not specified [RCV004266519]uncertain significance1212368341236834Humanname
329401877CV2457967single nucleotide variantNM_178040.4(ERC1):c.1767C>A (p.Asp589Glu)not specified [RCV004271545]uncertain significance1211805691180569Humanname
329397672CV2463900single nucleotide variantNM_178040.4(ERC1):c.2864A>T (p.Gln955Leu)not specified [RCV004279970]uncertain significance1213719161371916Humanname
401750548CV2689449single nucleotide variantNM_178040.4(ERC1):c.1957G>A (p.Asp653Asn)not specified [RCV004306251]uncertain significance1211820061182006Humanname
401763592CV2720379single nucleotide variantNM_178040.4(ERC1):c.1027G>A (p.Val343Ile)not specified [RCV004325689]uncertain significance1210835211083521Humanname
401765822CV2724497single nucleotide variantNM_178040.4(ERC1):c.1542G>T (p.Glu514Asp)not specified [RCV004331336]uncertain significance1211160061116006Humanname
401880856CV2789404single nucleotide variantNM_178040.4(ERC1):c.1997G>A (p.Gly666Asp)not specified [RCV004360046]uncertain significance1211820461182046Humanname
405289968CV3205909single nucleotide variantNM_178040.4(ERC1):c.1885A>G (p.Ile629Val)ERC1-related disorder [RCV003962111]benign1211819341181934Humanname , trait , alternate_id
405270482CV3211469single nucleotide variantNM_178040.4(ERC1):c.2207G>A (p.Arg736Gln)ERC1-related disorder [RCV003949353]likely benign1211899081189908Humanname , trait , alternate_id
405294322CV3214842single nucleotide variantNM_178040.4(ERC1):c.1372A>G (p.Lys458Glu)ERC1-related disorder [RCV003934253]benign1211122691112269Humanname , trait , alternate_id
405740483CV3259362single nucleotide variantNM_178040.4(ERC1):c.1097G>A (p.Arg366Gln)not specified [RCV004380500]uncertain significance1211047601104760Humanname
405740490CV3259363single nucleotide variantNM_178040.4(ERC1):c.1712G>A (p.Arg571Gln)not specified [RCV004380501]uncertain significance1211417621141762Humanname
405740497CV3259364single nucleotide variantNM_178040.4(ERC1):c.2158G>A (p.Ala720Thr)not specified [RCV004380502]uncertain significance1211898591189859Humanname
405740501CV3259365single nucleotide variantNM_178040.4(ERC1):c.2302G>A (p.Val768Met)not specified [RCV004380503]uncertain significance1211900031190003Humanname
405740507CV3259366single nucleotide variantNM_178040.4(ERC1):c.2441C>T (p.Ala814Val)not specified [RCV004380504]uncertain significance1212368581236858Humanname
405740513CV3259367single nucleotide variantNM_178040.4(ERC1):c.2447G>A (p.Arg816Gln)not specified [RCV004380505]uncertain significance1212368641236864Humanname
405740922CV3259368single nucleotide variantNM_178040.4(ERC1):c.2485C>A (p.Gln829Lys)not specified [RCV004380506]uncertain significance1212369021236902Humanname
405740536CV3259370single nucleotide variantNM_178040.4(ERC1):c.2675A>C (p.Lys892Thr)not specified [RCV004380508]uncertain significance1212899071289907Humanname
405740545CV3259371single nucleotide variantNM_178040.4(ERC1):c.2914C>T (p.Leu972Phe)not specified [RCV004380509]uncertain significance1213719661371966Humanname
407479649CV3441953single nucleotide variantNM_178040.4(ERC1):c.2459A>G (p.Asn820Ser)not specified [RCV004617829]uncertain significance1212368761236876Humanname
407479660CV3441956single nucleotide variantNM_178040.4(ERC1):c.2603C>T (p.Thr868Ile)not specified [RCV004617832]uncertain significance1212631491263149Humanname
407479664CV3441957single nucleotide variantNM_178040.4(ERC1):c.2044G>T (p.Ala682Ser)not specified [RCV004617833]uncertain significance1211833081183308Humanname
407479688CV3441962single nucleotide variantNM_178040.4(ERC1):c.2731A>C (p.Asn911His)not specified [RCV004617838]uncertain significance1212899631289963Humanname
407479697CV3441964single nucleotide variantNM_178040.4(ERC1):c.1861G>A (p.Ala621Thr)not specified [RCV004617840]uncertain significance1211806631180663Humanname
407479701CV3441965single nucleotide variantNM_178040.4(ERC1):c.2140G>A (p.Glu714Lys)not specified [RCV004617841]uncertain significance1211834041183404Humanname
597804174CV3671451single nucleotide variantNM_178040.4(ERC1):c.1879C>T (p.Arg627Trp)not specified [RCV004907561]uncertain significance1211819281181928Humanname
597748262CV3671454single nucleotide variantNM_178040.4(ERC1):c.1892G>A (p.Arg631His)not specified [RCV004923064]uncertain significance1211819411181941Humanname
597804178CV3671455single nucleotide variantNM_178040.4(ERC1):c.2141A>C (p.Glu714Ala)not specified [RCV004907563]uncertain significance1211834051183405Humanname
597804184CV3671458single nucleotide variantNM_178040.4(ERC1):c.1180A>C (p.Met394Leu)not specified [RCV004907566]uncertain significance1211102101110210Humanname
597748267CV3671459single nucleotide variantNM_178040.4(ERC1):c.2984C>A (p.Ser995Tyr)not specified [RCV004923065]uncertain significance1214082071408207Humanname
597748272CV3671460single nucleotide variantNM_178040.4(ERC1):c.2974T>C (p.Phe992Leu)not specified [RCV004923066]uncertain significance1214081971408197Humanname
597748280CV3671462single nucleotide variantNM_178040.4(ERC1):c.1907G>A (p.Arg636Lys)not specified [RCV004923068]uncertain significance1211819561181956Humanname
597804191CV3671465single nucleotide variantNM_178040.4(ERC1):c.1999G>A (p.Asp667Asn)not specified [RCV004907569]uncertain significance1211820481182048Humanname
597804193CV3671466single nucleotide variantNM_178040.4(ERC1):c.1565C>G (p.Thr522Ser)not specified [RCV004907570]uncertain significance1211160291116029Humanname
597804195CV3671467single nucleotide variantNM_178040.4(ERC1):c.1007T>C (p.Leu336Pro)not specified [RCV004907571]uncertain significance1210835011083501Humanname
598170043CV3961660single nucleotide variantNM_178040.4(ERC1):c.1346C>T (p.Ser449Leu)not specified [RCV005330616]uncertain significance1211122431112243Humanname
598170053CV3961663single nucleotide variantNM_178040.4(ERC1):c.1147G>C (p.Val383Leu)not specified [RCV005330619]uncertain significance1211048101104810Humanname
21072426CV792787duplicationNM_178040.4(ERC1):c.3037dup (p.Leu1013fs)Macrocephaly, dysmorphic facies, and psychomotor retardation [RCV000991444]likely pathogenic1214445701444571Human1name
156232814CV2273795single nucleotide variantNM_178040.4(ERC1):c.3218A>C (p.Gln1073Pro)not specified [RCV004132433]uncertain significance1214900971490097Humanname
156255270CV2280953single nucleotide variantNM_178040.4(ERC1):c.3080T>G (p.Ile1027Ser)not specified [RCV004145191]uncertain significance1214446171444617Humanname
401744048CV2684839single nucleotide variantNM_178040.4(ERC1):c.3163G>A (p.Asp1055Asn)not specified [RCV004295959]uncertain significance1214447001444700Humanname
405278230CV3221745single nucleotide variantNM_178040.4(ERC1):c.3094A>G (p.Thr1032Ala)ERC1-related disorder [RCV003976331]benign1214446311444631Humanname , trait , alternate_id
407479656CV3441955single nucleotide variantNM_178040.4(ERC1):c.3127C>T (p.Arg1043Cys)not specified [RCV004617831]uncertain significance1214446641444664Humanname
407479669CV3441958single nucleotide variantNM_178040.4(ERC1):c.3035C>G (p.Pro1012Arg)not specified [RCV004617834]uncertain significance1214445721444572Humanname
407479683CV3441961single nucleotide variantNM_178040.4(ERC1):c.3206G>C (p.Arg1069Pro)not specified [RCV004617837]uncertain significance1214447431444743Humanname
597748275CV3671461single nucleotide variantNM_178040.4(ERC1):c.3006C>G (p.His1002Gln)not specified [RCV004923067]uncertain significance1214082291408229Humanname
598170050CV3961662single nucleotide variantNM_178040.4(ERC1):c.3108C>G (p.Asp1036Glu)not specified [RCV005330618]uncertain significance1214446451444645Humanname
598170056CV3961664single nucleotide variantNM_178040.4(ERC1):c.3205C>T (p.Arg1069Trp)not specified [RCV005330620]uncertain significance1214447421444742Humanname
617150944CV4021961single nucleotide variantNM_178040.4(ERC1):c.3142C>G (p.Pro1048Ala)not provided [RCV005426922]uncertain significance1214446791444679Humanname