Send us a Message



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


62 records found for search term Cog3
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8627456CV82600single nucleotide variantNM_031431.3(COG3):c.1488+1G>TMalignant melanoma [RCV000062680]not provided134549631345496313Humanname
156305791CV2338912single nucleotide variantNM_031431.4(COG3):c.5C>T (p.Ala2Val)not specified [RCV004184504]uncertain significance134546504145465041Humanname
405686161CV3306890single nucleotide variantNM_031431.4(COG3):c.10G>C (p.Ala4Pro)not specified [RCV004444440]uncertain significance134546504645465046Humanname
405686234CV3306905single nucleotide variantNM_031431.4(COG3):c.95C>T (p.Thr32Met)not specified [RCV004444455]uncertain significance134546513145465131Humanname
407450945CV3425967single nucleotide variantNM_031431.4(COG3):c.79C>T (p.Arg27Trp)not specified [RCV004607870]uncertain significance134546511545465115Humanname
156156829CV2238569single nucleotide variantNM_031431.4(COG3):c.131T>C (p.Leu44Ser)not specified [RCV004107181]uncertain significance134546516745465167Humanname
156083807CV2343103single nucleotide variantNM_031431.4(COG3):c.119C>G (p.Thr40Arg)not specified [RCV004603317]uncertain significance134546515545465155Humanname
156229692CV2353005single nucleotide variantNM_031431.4(COG3):c.223G>A (p.Glu75Lys)not specified [RCV004201035]uncertain significance134547624945476249Humanname
401860613CV2752322single nucleotide variantNM_031431.4(COG3):c.124T>C (p.Ser42Pro)Congenital disorder of glycosylation, type IIbb [RCV003337695]pathogenic134546516045465160Human1name
401860615CV2752323single nucleotide variantNM_031431.4(COG3):c.109G>C (p.Asp37His)Congenital disorder of glycosylation, type IIbb [RCV003337696]pathogenic134546514545465145Human1name
405686182CV3306895single nucleotide variantNM_031431.4(COG3):c.181A>G (p.Ile61Val)not specified [RCV004444445]uncertain significance134547620745476207Humanname
405866526CV3396680single nucleotide variantNM_031431.4(COG3):c.244G>A (p.Glu82Lys)Congenital disorder of glycosylation, type IIbb [RCV004566541]uncertain significance134547627045476270Human1name
407450942CV3425966single nucleotide variantNM_031431.4(COG3):c.113G>A (p.Arg38Lys)not specified [RCV004607869]uncertain significance134546514945465149Humanname
598216182CV3952132single nucleotide variantNM_031431.4(COG3):c.221T>C (p.Ile74Thr)not specified [RCV005316874]uncertain significance134547624745476247Humanname
598216223CV3952138single nucleotide variantNM_031431.4(COG3):c.196A>T (p.Ser66Cys)not specified [RCV005316880]uncertain significance134547622245476222Humanname
156083167CV2249182single nucleotide variantNM_031431.4(COG3):c.817A>T (p.Thr273Ser)not specified [RCV004118229]uncertain significance134548332945483329Humanname
155975613CV2270092single nucleotide variantNM_031431.4(COG3):c.905C>G (p.Ala302Gly)not specified [RCV004129055]uncertain significance134548655645486556Humanname
156206356CV2297955single nucleotide variantNM_031431.4(COG3):c.343C>A (p.Leu115Met)not specified [RCV004157877]uncertain significance134547902645479026Humanname
155905621CV2393114single nucleotide variantNM_031431.4(COG3):c.356T>C (p.Met119Thr)not specified [RCV004226594]uncertain significance134547903945479039Humanname
156165865CV2398868single nucleotide variantNM_031431.4(COG3):c.782A>G (p.His261Arg)not specified [RCV004245189]uncertain significance134548329445483294Humanname
329356855CV2460588single nucleotide variantNM_031431.4(COG3):c.376A>G (p.Lys126Glu)not specified [RCV004268865]uncertain significance134547905945479059Humanname
405686224CV3306903single nucleotide variantNM_031431.4(COG3):c.846T>A (p.Asp282Glu)not specified [RCV004444453]uncertain significance134548649745486497Humanname
405686231CV3306904single nucleotide variantNM_031431.4(COG3):c.955G>A (p.Glu319Lys)not specified [RCV004444454]uncertain significance134549094545490945Humanname
597772553CV3660520single nucleotide variantNM_031431.4(COG3):c.386A>G (p.Gln129Arg)not specified [RCV004897372]uncertain significance134548012745480127Humanname
597772568CV3660523single nucleotide variantNM_031431.4(COG3):c.386A>C (p.Gln129Pro)not specified [RCV004897375]uncertain significance134548012745480127Humanname
598216189CV3952133single nucleotide variantNM_031431.4(COG3):c.721A>G (p.Asn241Asp)not specified [RCV005316875]uncertain significance134548323345483233Humanname
598216202CV3952135single nucleotide variantNM_031431.4(COG3):c.569C>G (p.Ala190Gly)not specified [RCV005316877]uncertain significance134548124945481249Humanname
156025664CV2242263single nucleotide variantNM_031431.4(COG3):c.2225A>C (p.Gln742Pro)not specified [RCV004111287]uncertain significance134552504645525046Humanname
155988531CV2259579single nucleotide variantNM_031431.4(COG3):c.1616C>G (p.Pro539Arg)not specified [RCV004116626]uncertain significance134550971345509713Humanname
156086334CV2295328single nucleotide variantNM_031431.4(COG3):c.1988G>A (p.Ser663Asn)not specified [RCV004158692]uncertain significance134551881945518819Humanname
156280059CV2315947single nucleotide variantNM_031431.4(COG3):c.1171C>T (p.Pro391Ser)not specified [RCV004172018]uncertain significance134549223445492234Humanname
156278448CV2316686single nucleotide variantNM_031431.4(COG3):c.2065G>A (p.Val689Ile)not specified [RCV004171917]uncertain significance134551900545519005Humanname
155932741CV2400082single nucleotide variantNM_031431.4(COG3):c.2143T>C (p.Phe715Leu)not specified [RCV004246996]uncertain significance134551908345519083Humanname
156225585CV2400918single nucleotide variantNM_031431.4(COG3):c.1445C>T (p.Ala482Val)not specified [RCV004244208]uncertain significance134549626945496269Humanname
329386514CV2456065single nucleotide variantNM_031431.4(COG3):c.2435T>C (p.Ile812Thr)not specified [RCV004272962]uncertain significance134553075845530758Humanname
329398824CV2471734single nucleotide variantNM_031431.4(COG3):c.2011T>G (p.Leu671Val)not specified [RCV004280784]uncertain significance134551884245518842Humanname
401782260CV2686619single nucleotide variantNM_031431.4(COG3):c.1468G>A (p.Asp490Asn)not specified [RCV004300039]uncertain significance134549629245496292Humanname
401896344CV2781092single nucleotide variantNM_031431.4(COG3):c.1315G>A (p.Val439Met)not specified [RCV004358465]uncertain significance134549347445493474Humanname
405686154CV3306889single nucleotide variantNM_031431.4(COG3):c.1006C>G (p.Leu336Val)not specified [RCV004444439]uncertain significance134549144945491449Humanname
405686166CV3306891single nucleotide variantNM_031431.4(COG3):c.1295A>G (p.Asn432Ser)not specified [RCV004444441]uncertain significance134549345445493454Humanname
405686170CV3306892single nucleotide variantNM_031431.4(COG3):c.1485G>A (p.Met495Ile)not specified [RCV004444442]uncertain significance134549630945496309Humanname
405686173CV3306893single nucleotide variantNM_031431.4(COG3):c.1633A>G (p.Ile545Val)not specified [RCV004444443]uncertain significance134550973045509730Humanname
405686179CV3306894single nucleotide variantNM_031431.4(COG3):c.1657A>G (p.Met553Val)not specified [RCV004444444]uncertain significance134550975445509754Humanname
405686187CV3306896single nucleotide variantNM_031431.4(COG3):c.2125G>A (p.Val709Ile)not specified [RCV004444446]uncertain significance134551906545519065Humanname
405686191CV3306897single nucleotide variantNM_031431.4(COG3):c.2173A>G (p.Met725Val)not specified [RCV004444447]uncertain significance134552499445524994Humanname
405686603CV3306898single nucleotide variantNM_031431.4(COG3):c.2215C>T (p.Pro739Ser)not specified [RCV004444448]uncertain significance134552503645525036Humanname
405686204CV3306899single nucleotide variantNM_031431.4(COG3):c.2249C>T (p.Ala750Val)not specified [RCV004444449]likely benign134552980945529809Humanname
405686208CV3306900single nucleotide variantNM_031431.4(COG3):c.2275A>G (p.Thr759Ala)not specified [RCV004444450]likely benign134552983545529835Humanname
405686212CV3306901single nucleotide variantNM_031431.4(COG3):c.2374G>A (p.Val792Ile)not specified [RCV004444451]uncertain significance134553069745530697Humanname
407450933CV3425963single nucleotide variantNM_031431.4(COG3):c.2321A>G (p.Asn774Ser)not specified [RCV004607866]uncertain significance134552988145529881Humanname
407450936CV3425964single nucleotide variantNM_031431.4(COG3):c.1468G>C (p.Asp490His)not specified [RCV004607867]uncertain significance134549629245496292Humanname
407450939CV3425965single nucleotide variantNM_031431.4(COG3):c.1520A>G (p.Lys507Arg)not specified [RCV004607868]uncertain significance134550327545503275Humanname
597772536CV3660516single nucleotide variantNM_031431.4(COG3):c.1430C>T (p.Thr477Met)not specified [RCV004897368]uncertain significance134549625445496254Humanname
597772539CV3660517single nucleotide variantNM_031431.4(COG3):c.2449A>G (p.Met817Val)not specified [RCV004897369]uncertain significance134553077245530772Humanname
597772545CV3660518single nucleotide variantNM_031431.4(COG3):c.1811C>T (p.Thr604Ile)not specified [RCV004897370]uncertain significance134551614445516144Humanname
597772548CV3660519single nucleotide variantNM_031431.4(COG3):c.1259T>C (p.Leu420Ser)not specified [RCV004897371]uncertain significance134549341845493418Humanname
597772558CV3660521single nucleotide variantNM_031431.4(COG3):c.1090G>T (p.Ala364Ser)not specified [RCV004897373]uncertain significance134549153345491533Humanname
597772563CV3660522single nucleotide variantNM_031431.4(COG3):c.1802A>G (p.Lys601Arg)not specified [RCV004897374]uncertain significance134551184745511847Humanname
598216195CV3952134single nucleotide variantNM_031431.4(COG3):c.1510G>A (p.Asp504Asn)not specified [RCV005316876]uncertain significance134550326545503265Humanname
598216210CV3952136single nucleotide variantNM_031431.4(COG3):c.1837A>G (p.Ile613Val)not specified [RCV005316878]uncertain significance134551617045516170Humanname
598216216CV3952137single nucleotide variantNM_031431.4(COG3):c.1300G>A (p.Val434Met)not specified [RCV005316879]uncertain significance134549345945493459Humanname
8635052CV90274single nucleotide variantNM_031431.3(COG3):c.2306C>T (p.Ser769Phe)Malignant melanoma [RCV000070372]not provided134552986645529866Humanname