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)


63 records found for search term Esco1
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15194181CV731207microsatelliteNM_052911.3(ESCO1):c.1954-22AT[10]not provided [RCV000889152]benign182154001321540014Humanname
156065387CV2196914single nucleotide variantNM_052911.3(ESCO1):c.26A>C (p.Lys9Thr)not specified [RCV004071378]uncertain significance182157481821574818Humanname
597690759CV3664984single nucleotide variantNM_052911.3(ESCO1):c.86A>G (p.Gln29Arg)not specified [RCV004915242]uncertain significance182157475821574758Humanname
15191573CV772042single nucleotide variantNM_052911.3(ESCO1):c.771G>A (p.Pro257=)not provided [RCV000932839]likely benign182157407321574073Humanname
155985458CV2247868single nucleotide variantNM_052911.3(ESCO1):c.164G>A (p.Ser55Asn)not specified [RCV004121323]uncertain significance182157468021574680Humanname
401743888CV2696890single nucleotide variantNM_052911.3(ESCO1):c.205A>G (p.Arg69Gly)not specified [RCV004292896]uncertain significance182157463921574639Humanname
401863803CV2770837single nucleotide variantNM_052911.3(ESCO1):c.235G>A (p.Ala79Thr)not specified [RCV004349869]likely benign182157460921574609Humanname
405742970CV3259698single nucleotide variantNM_052911.3(ESCO1):c.208T>C (p.Ser70Pro)not specified [RCV004380836]uncertain significance182157463621574636Humanname
405742987CV3259700single nucleotide variantNM_052911.3(ESCO1):c.283C>G (p.Gln95Glu)not specified [RCV004380838]uncertain significance182157456121574561Humanname
156300472CV2306963single nucleotide variantNM_052911.3(ESCO1):c.884C>T (p.Ala295Val)not specified [RCV004157477]uncertain significance182157396021573960Humanname
156054188CV2308646single nucleotide variantNM_052911.3(ESCO1):c.500C>G (p.Ser167Cys)not specified [RCV004167199]uncertain significance182157434421574344Humanname
156308191CV2332257single nucleotide variantNM_052911.3(ESCO1):c.973T>C (p.Ser325Pro)not specified [RCV004182429]uncertain significance182157387121573871Humanname
155983490CV2344310single nucleotide variantNM_052911.3(ESCO1):c.466A>G (p.Lys156Glu)not specified [RCV004195069]uncertain significance182157437821574378Humanname
156052091CV2391298single nucleotide variantNM_052911.3(ESCO1):c.829C>G (p.Pro277Ala)not specified [RCV004237299]uncertain significance182157401521574015Humanname
329360721CV2439637single nucleotide variantNM_052911.3(ESCO1):c.641G>T (p.Cys214Phe)not specified [RCV004255652]uncertain significance182157420321574203Humanname
329396424CV2459649single nucleotide variantNM_052911.3(ESCO1):c.632A>G (p.Gln211Arg)not specified [RCV004277084]uncertain significance182157421221574212Humanname
401756279CV2687068single nucleotide variantNM_052911.3(ESCO1):c.637G>T (p.Ala213Ser)not specified [RCV004304387]uncertain significance182157420721574207Humanname
401763476CV2703880single nucleotide variantNM_052911.3(ESCO1):c.983T>C (p.Met328Thr)not specified [RCV004306741]uncertain significance182157386121573861Humanname
401898034CV2780065single nucleotide variantNM_052911.3(ESCO1):c.349C>G (p.Gln117Glu)not specified [RCV004355729]uncertain significance182157449521574495Humanname
405742993CV3259701single nucleotide variantNM_052911.3(ESCO1):c.362G>A (p.Arg121Lys)not specified [RCV004380839]uncertain significance182157448221574482Humanname
405743005CV3259703single nucleotide variantNM_052911.3(ESCO1):c.710C>T (p.Thr237Met)not specified [RCV004380841]uncertain significance182157413421574134Humanname
405743012CV3259704single nucleotide variantNM_052911.3(ESCO1):c.859C>G (p.Gln287Glu)not specified [RCV004380842]uncertain significance182157398521573985Humanname
407480688CV3442188single nucleotide variantNM_052911.3(ESCO1):c.412A>G (p.Ser138Gly)not specified [RCV004618064]uncertain significance182157443221574432Humanname
407480694CV3442189single nucleotide variantNM_052911.3(ESCO1):c.770C>T (p.Pro257Leu)not specified [RCV004618065]uncertain significance182157407421574074Humanname
407480701CV3442190single nucleotide variantNM_052911.3(ESCO1):c.778A>T (p.Asn260Tyr)not specified [RCV004618066]uncertain significance182157406621574066Humanname
407480723CV3442194single nucleotide variantNM_052911.3(ESCO1):c.308C>G (p.Ser103Cys)not specified [RCV004618070]uncertain significance182157453621574536Humanname
597689885CV3664973single nucleotide variantNM_052911.3(ESCO1):c.984G>A (p.Met328Ile)not specified [RCV004915231]uncertain significance182157386021573860Humanname
597689897CV3664974single nucleotide variantNM_052911.3(ESCO1):c.404C>T (p.Ser135Leu)not specified [RCV004915232]uncertain significance182157444021574440Humanname
597689907CV3664975single nucleotide variantNM_052911.3(ESCO1):c.509C>T (p.Thr170Ile)not specified [RCV004915233]uncertain significance182157433521574335Humanname
597690788CV3664981single nucleotide variantNM_052911.3(ESCO1):c.890A>G (p.Lys297Arg)not specified [RCV004915239]uncertain significance182157395421573954Humanname
597690779CV3664982single nucleotide variantNM_052911.3(ESCO1):c.934G>C (p.Gly312Arg)not specified [RCV004915240]uncertain significance182157391021573910Humanname
598182000CV3958179single nucleotide variantNM_052911.3(ESCO1):c.679T>G (p.Cys227Gly)not specified [RCV005333055]uncertain significance182157416521574165Humanname
156379746CV2217962single nucleotide variantNM_052911.3(ESCO1):c.1520C>T (p.Ala507Val)not specified [RCV004086414]uncertain significance182157332421573324Humanname
156111854CV2261799single nucleotide variantNM_052911.3(ESCO1):c.1501A>G (p.Lys501Glu)not specified [RCV004126079]uncertain significance182157334321573343Humanname
155952369CV2306078single nucleotide variantNM_052911.3(ESCO1):c.1803T>G (p.Asp601Glu)not specified [RCV004162843]uncertain significance182156422121564221Humanname
156141789CV2358437single nucleotide variantNM_052911.3(ESCO1):c.1748A>G (p.His583Arg)not specified [RCV004207330]uncertain significance182156427621564276Humanname
155928055CV2361855single nucleotide variantNM_052911.3(ESCO1):c.1544G>C (p.Cys515Ser)not specified [RCV004207632]uncertain significance182156808121568081Humanname
156072030CV2365359single nucleotide variantNM_052911.3(ESCO1):c.1685C>A (p.Thr562Lys)not specified [RCV004209444]uncertain significance182156616721566167Humanname
156078576CV2375191single nucleotide variantNM_052911.3(ESCO1):c.1732C>G (p.Pro578Ala)not specified [RCV004230231]uncertain significance182156429221564292Humanname
156043513CV2381554single nucleotide variantNM_052911.3(ESCO1):c.1525A>C (p.Asn509His)not specified [RCV004230025]uncertain significance182157331921573319Humanname
329398084CV2464756single nucleotide variantNM_052911.3(ESCO1):c.1158G>C (p.Lys386Asn)not specified [RCV004284719]uncertain significance182157368621573686Humanname
401876341CV2785857single nucleotide variantNM_052911.3(ESCO1):c.2223C>G (p.Ile741Met)not specified [RCV004365381]uncertain significance182153262521532625Humanname
405742930CV3259692single nucleotide variantNM_052911.3(ESCO1):c.1013A>G (p.Glu338Gly)not specified [RCV004380830]uncertain significance182157383121573831Humanname
405742938CV3259693single nucleotide variantNM_052911.3(ESCO1):c.1090C>T (p.Arg364Cys)not specified [RCV004380831]uncertain significance182157375421573754Humanname
405742947CV3259694single nucleotide variantNM_052911.3(ESCO1):c.1324A>G (p.Lys442Glu)not specified [RCV004380832]uncertain significance182157352021573520Humanname
405742953CV3259695single nucleotide variantNM_052911.3(ESCO1):c.1612G>T (p.Ala538Ser)not specified [RCV004380833]uncertain significance182156801321568013Humanname
405742976CV3259699single nucleotide variantNM_052911.3(ESCO1):c.2185T>A (p.Trp729Arg)not specified [RCV004380837]uncertain significance182153604421536044Humanname
407480706CV3442191single nucleotide variantNM_052911.3(ESCO1):c.1727C>T (p.Ser576Phe)not specified [RCV004618067]uncertain significance182156429721564297Humanname
407480713CV3442192single nucleotide variantNM_052911.3(ESCO1):c.2278A>G (p.Thr760Ala)not specified [RCV004618068]uncertain significance182153257021532570Humanname
407480717CV3442193single nucleotide variantNM_052911.3(ESCO1):c.1387G>A (p.Val463Met)not specified [RCV004618069]uncertain significance182157345721573457Humanname
407480728CV3442195single nucleotide variantNM_052911.3(ESCO1):c.1280T>C (p.Leu427Ser)not specified [RCV004618071]uncertain significance182157356421573564Humanname
597689866CV3664971single nucleotide variantNM_052911.3(ESCO1):c.2144A>T (p.Asp715Val)not specified [RCV004915229]uncertain significance182153608521536085Humanname
597689875CV3664972single nucleotide variantNM_052911.3(ESCO1):c.1814T>G (p.Leu605Trp)not specified [RCV004915230]uncertain significance182156421021564210Humanname
597689917CV3664976single nucleotide variantNM_052911.3(ESCO1):c.1490A>G (p.Asp497Gly)not specified [RCV004915234]uncertain significance182157335421573354Humanname
597689931CV3664977single nucleotide variantNM_052911.3(ESCO1):c.1418A>G (p.Asn473Ser)not specified [RCV004915235]uncertain significance182157342621573426Humanname
597690817CV3664978single nucleotide variantNM_052911.3(ESCO1):c.1366A>C (p.Lys456Gln)not specified [RCV004915236]uncertain significance182157347821573478Humanname
597690807CV3664979single nucleotide variantNM_052911.3(ESCO1):c.1487T>C (p.Leu496Ser)not specified [RCV004915237]uncertain significance182157335721573357Humanname
597690796CV3664980single nucleotide variantNM_052911.3(ESCO1):c.1112C>T (p.Thr371Ile)not specified [RCV004915238]uncertain significance182157373221573732Humanname
597690769CV3664983single nucleotide variantNM_052911.3(ESCO1):c.2101A>T (p.Met701Leu)not specified [RCV004915241]uncertain significance182153612821536128Humanname
597690749CV3664985single nucleotide variantNM_052911.3(ESCO1):c.1387G>T (p.Val463Leu)not specified [RCV004915243]uncertain significance182157345721573457Humanname
597690741CV3664986single nucleotide variantNM_052911.3(ESCO1):c.1837A>G (p.Arg613Gly)not specified [RCV004915244]uncertain significance182156097521560975Humanname
598182004CV3958180single nucleotide variantNM_052911.3(ESCO1):c.2515A>G (p.Ser839Gly)not specified [RCV005333056]uncertain significance182153035121530351Humanname
598182008CV3958181single nucleotide variantNM_052911.3(ESCO1):c.1259C>A (p.Thr420Asn)not specified [RCV005333057]uncertain significance182157358521573585Humanname