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52 records found for search term Ccdc112
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15133643CV709567single nucleotide variantNM_001040440.3(CCDC112):c.195T>A (p.Thr65=)not provided [RCV000964988]benign5115284831115284831Humanname
15157360CV698736single nucleotide variantNM_001040440.3(CCDC112):c.630A>G (p.Lys210=)not provided [RCV000946870]benign5115275504115275504Humanname
15167960CV709566single nucleotide variantNM_001040440.3(CCDC112):c.558A>G (p.Thr186=)not provided [RCV000971511]benign5115275576115275576Humanname
156094621CV2310028single nucleotide variantNM_001040440.3(CCDC112):c.281A>G (p.Asn94Ser)not specified [RCV004163166]uncertain significance5115279727115279727Humanname
155976502CV2324742single nucleotide variantNM_001040440.3(CCDC112):c.193A>T (p.Thr65Ser)not specified [RCV004172981]uncertain significance5115284833115284833Humanname
401726666CV2677302single nucleotide variantNM_001040440.3(CCDC112):c.202G>C (p.Ala68Pro)not specified [RCV004295919]uncertain significance5115284824115284824Humanname
401744520CV2680980single nucleotide variantNM_001040440.3(CCDC112):c.251T>A (p.Met84Lys)not specified [RCV004296049]uncertain significance5115279757115279757Humanname
401741060CV2702745single nucleotide variantNM_001040440.3(CCDC112):c.154C>T (p.Pro52Ser)not specified [RCV004318985]likely benign5115284872115284872Humanname
407483114CV3422113single nucleotide variantNM_001040440.3(CCDC112):c.161A>G (p.His54Arg)not specified [RCV004602793]uncertain significance5115284865115284865Humanname
597786240CV3637978single nucleotide variantNM_001040440.3(CCDC112):c.241G>A (p.Val81Ile)not specified [RCV004900930]uncertain significance5115279767115279767Humanname
597786266CV3637984single nucleotide variantNM_001040440.3(CCDC112):c.218C>G (p.Thr73Arg)not specified [RCV004900936]uncertain significance5115284808115284808Humanname
15105648CV749147single nucleotide variantNM_001040440.3(CCDC112):c.1203A>G (p.Leu401=)not provided [RCV000915589]benign5115271342115271342Humanname
155977027CV2266366single nucleotide variantNM_001040440.3(CCDC112):c.661G>A (p.Val221Ile)not specified [RCV004129177]uncertain significance5115275473115275473Humanname
156036738CV2283090single nucleotide variantNM_001040440.3(CCDC112):c.727A>T (p.Thr243Ser)not specified [RCV004143701]uncertain significance5115275407115275407Humanname
156050928CV2323313single nucleotide variantNM_001040440.3(CCDC112):c.682A>T (p.Thr228Ser)not specified [RCV004171726]uncertain significance5115275452115275452Humanname
155967821CV2329968single nucleotide variantNM_001040440.3(CCDC112):c.752A>T (p.Asp251Val)not specified [RCV004183420]uncertain significance5115275382115275382Humanname
155916269CV2336119single nucleotide variantNM_001040440.3(CCDC112):c.340A>T (p.Ile114Phe)not specified [RCV004189713]uncertain significance5115279668115279668Humanname
156192215CV2388643single nucleotide variantNM_001040440.3(CCDC112):c.568G>C (p.Glu190Gln)not specified [RCV004239520]uncertain significance5115275566115275566Humanname
329362286CV2444553single nucleotide variantNM_001040440.3(CCDC112):c.895G>T (p.Ala299Ser)not specified [RCV004256778]uncertain significance5115275239115275239Humanname
329391337CV2447746single nucleotide variantNM_001040440.3(CCDC112):c.771C>G (p.Asn257Lys)not specified [RCV004258529]uncertain significance5115275363115275363Humanname
329362386CV2463880single nucleotide variantNM_001040440.3(CCDC112):c.956G>A (p.Arg319Lys)not specified [RCV004279955]likely benign5115271589115271589Humanname
405754640CV3302781single nucleotide variantNM_001040440.3(CCDC112):c.458A>C (p.Glu153Ala)not specified [RCV004432641]uncertain significance5115276063115276063Humanname
405754647CV3302782single nucleotide variantNM_001040440.3(CCDC112):c.513A>C (p.Glu171Asp)not specified [RCV004432642]uncertain significance5115276008115276008Humanname
405754654CV3302783single nucleotide variantNM_001040440.3(CCDC112):c.627G>T (p.Glu209Asp)not specified [RCV004432643]uncertain significance5115275507115275507Humanname
405754661CV3302784single nucleotide variantNM_001040440.3(CCDC112):c.659C>G (p.Pro220Arg)not specified [RCV004432644]uncertain significance5115275475115275475Humanname
405754668CV3302785single nucleotide variantNM_001040440.3(CCDC112):c.698T>A (p.Val233Glu)not specified [RCV004432645]uncertain significance5115275436115275436Humanname
407483118CV3422114single nucleotide variantNM_001040440.3(CCDC112):c.997C>T (p.Pro333Ser)not specified [RCV004602794]uncertain significance5115271548115271548Humanname
407483130CV3422117single nucleotide variantNM_001040440.3(CCDC112):c.898C>G (p.Leu300Val)not specified [RCV004602797]uncertain significance5115275236115275236Humanname
407483135CV3422118single nucleotide variantNM_001040440.3(CCDC112):c.802A>G (p.Lys268Glu)not specified [RCV004602798]uncertain significance5115275332115275332Humanname
597786249CV3637980single nucleotide variantNM_001040440.3(CCDC112):c.311G>A (p.Ser104Asn)not specified [RCV004900932]uncertain significance5115279697115279697Humanname
597786261CV3637983single nucleotide variantNM_001040440.3(CCDC112):c.644T>C (p.Ile215Thr)not specified [RCV004900935]uncertain significance5115275490115275490Humanname
15172038CV721162single nucleotide variantNM_001040440.3(CCDC112):c.950A>G (p.Gln317Arg)not provided [RCV000883764]benign5115271595115271595Humanname
156379452CV2207972single nucleotide variantNM_001040440.3(CCDC112):c.1108T>C (p.Ser370Pro)not specified [RCV004086348]uncertain significance5115271437115271437Humanname
156333832CV2220889single nucleotide variantNM_001040440.3(CCDC112):c.1000G>A (p.Val334Met)not specified [RCV004092313]likely benign5115271545115271545Humanname
155975078CV2221311single nucleotide variantNM_001040440.3(CCDC112):c.1339C>A (p.His447Asn)not specified [RCV004094735]uncertain significance5115269792115269792Humanname
156066538CV2236919single nucleotide variantNM_001040440.3(CCDC112):c.1311A>T (p.Glu437Asp)not specified [RCV004112923]uncertain significance5115271234115271234Humanname
156015916CV2360354single nucleotide variantNM_001040440.3(CCDC112):c.1363G>A (p.Asp455Asn)not specified [RCV004208688]uncertain significance5115269768115269768Humanname
329373628CV2447298single nucleotide variantNM_001040440.3(CCDC112):c.1111A>G (p.Met371Val)not specified [RCV004262585]uncertain significance5115271434115271434Humanname
401772510CV2719663single nucleotide variantNM_001040440.3(CCDC112):c.1013A>G (p.Asn338Ser)not specified [RCV004329110]uncertain significance5115271532115271532Humanname
401767586CV2729772single nucleotide variantNM_001040440.3(CCDC112):c.1535A>G (p.His512Arg)not specified [RCV004332789]uncertain significance5115268894115268894Humanname
401887480CV2771962single nucleotide variantNM_001040440.3(CCDC112):c.1360C>A (p.Leu454Ile)not specified [RCV004344653]uncertain significance5115269771115269771Humanname
405754617CV3302778single nucleotide variantNM_001040440.3(CCDC112):c.1172G>A (p.Arg391His)not specified [RCV004432638]uncertain significance5115271373115271373Humanname
405754624CV3302779single nucleotide variantNM_001040440.3(CCDC112):c.1178G>T (p.Arg393Leu)not specified [RCV004432639]uncertain significance5115271367115271367Humanname
405754632CV3302780single nucleotide variantNM_001040440.3(CCDC112):c.1520C>G (p.Ser507Cys)not specified [RCV004432640]uncertain significance5115268909115268909Humanname
407483124CV3422115single nucleotide variantNM_001040440.3(CCDC112):c.1129T>A (p.Leu377Ile)not specified [RCV004602795]uncertain significance5115271416115271416Humanname
597786235CV3637976single nucleotide variantNM_001040440.3(CCDC112):c.1531C>G (p.Leu511Val)not specified [RCV004900929]uncertain significance5115268898115268898Humanname
597760693CV3637977single nucleotide variantNM_001040440.3(CCDC112):c.1150G>C (p.Glu384Gln)not specified [RCV004894826]uncertain significance5115271395115271395Humanname
597786245CV3637979single nucleotide variantNM_001040440.3(CCDC112):c.1537A>G (p.Ile513Val)not specified [RCV004900931]uncertain significance5115268892115268892Humanname
597786257CV3637982single nucleotide variantNM_001040440.3(CCDC112):c.1334A>T (p.Asp445Val)not specified [RCV004900934]uncertain significance5115269797115269797Humanname
598176893CV3950581single nucleotide variantNM_001040440.3(CCDC112):c.1090C>A (p.Gln364Lys)not specified [RCV005310113]uncertain significance5115271455115271455Humanname
598227107CV3950582single nucleotide variantNM_001040440.3(CCDC112):c.1300G>C (p.Ala434Pro)not specified [RCV005318869]uncertain significance5115271245115271245Humanname
598176900CV3950583single nucleotide variantNM_001040440.3(CCDC112):c.1424A>T (p.Glu475Val)not specified [RCV005310114]uncertain significance5115269707115269707Humanname