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77 records found for search term Tmem214
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401929411CV2815615single nucleotide variantNM_017727.5(TMEM214):c.1153-93G>Anot provided [RCV003407185]likely benign22703805327038053Humanname
156254062CV2209612single nucleotide variantNM_017727.5(TMEM214):c.71C>G (p.Ala24Gly)not specified [RCV004093706]uncertain significance22703308627033086Humanname
156254366CV2209636single nucleotide variantNM_017727.5(TMEM214):c.58C>G (p.Pro20Ala)not specified [RCV004093715]uncertain significance22703307327033073Humanname
156061435CV2280404single nucleotide variantNM_017727.5(TMEM214):c.61G>C (p.Gly21Arg)not specified [RCV004140583]uncertain significance22703307627033076Humanname
405753899CV3336296single nucleotide variantNM_017727.5(TMEM214):c.88G>C (p.Gly30Arg)not specified [RCV004467523]uncertain significance22703310327033103Humanname
597795241CV3613710single nucleotide variantNM_017727.5(TMEM214):c.41T>A (p.Val14Glu)not specified [RCV004878149]uncertain significance22703305627033056Humanname
156358560CV2328023single nucleotide variantNM_017727.5(TMEM214):c.268A>C (p.Lys90Gln)not specified [RCV004173156]uncertain significance22703418327034183Humanname
329400539CV2438461single nucleotide variantNM_017727.5(TMEM214):c.289A>G (p.Thr97Ala)not specified [RCV004259611]likely benign22703420427034204Humanname
401893304CV2765090single nucleotide variantNM_017727.5(TMEM214):c.166A>G (p.Thr56Ala)not specified [RCV004337587]uncertain significance22703408127034081Humanname
597754045CV3613711single nucleotide variantNM_017727.5(TMEM214):c.208C>T (p.Arg70Trp)not specified [RCV004867512]uncertain significance22703412327034123Humanname
598252204CV3913729single nucleotide variantNM_017727.5(TMEM214):c.233C>T (p.Pro78Leu)not specified [RCV005278045]uncertain significance22703414827034148Humanname
598213812CV3913731single nucleotide variantNM_017727.5(TMEM214):c.256C>T (p.Pro86Ser)not specified [RCV005292394]uncertain significance22703417127034171Humanname
15201117CV697509single nucleotide variantNM_017727.5(TMEM214):c.1341C>T (p.Asn447=)not provided [RCV000957529]benign22703874927038749Humanname
15112933CV708199single nucleotide variantNM_017727.5(TMEM214):c.1122C>A (p.Thr374=)not provided [RCV000961392]benign22703767227037672Humanname
155922872CV2251794single nucleotide variantNM_017727.5(TMEM214):c.319C>T (p.Arg107Cys)not specified [RCV004119785]uncertain significance22703423427034234Humanname
156193701CV2297010single nucleotide variantNM_017727.5(TMEM214):c.752G>A (p.Arg251Gln)not specified [RCV004150936]uncertain significance22703651827036518Humanname
156050998CV2336632single nucleotide variantNM_017727.5(TMEM214):c.814G>A (p.Glu272Lys)not specified [RCV004196877]uncertain significance22703658027036580Humanname
156170567CV2354879single nucleotide variantNM_017727.5(TMEM214):c.921C>G (p.Asn307Lys)not specified [RCV004191375]uncertain significance22703708927037089Humanname
156134101CV2383088single nucleotide variantNM_017727.5(TMEM214):c.548G>A (p.Arg183Gln)not specified [RCV004217660]uncertain significance22703563927035639Humanname
156086124CV2390782single nucleotide variantNM_017727.5(TMEM214):c.469C>A (p.Leu157Ile)not specified [RCV004241068]uncertain significance22703525227035252Humanname
329370970CV2461901single nucleotide variantNM_017727.5(TMEM214):c.527G>A (p.Arg176Gln)not specified [RCV004271809]uncertain significance22703561827035618Humanname
401770045CV2719009single nucleotide variantNM_017727.5(TMEM214):c.326G>A (p.Arg109His)not specified [RCV004322596]uncertain significance22703424127034241Humanname
401753112CV2720635single nucleotide variantNM_017727.5(TMEM214):c.640G>A (p.Glu214Lys)not specified [RCV004327998]uncertain significance22703597227035972Humanname
401828918CV2747146single nucleotide variantNM_017727.5(TMEM214):c.937G>A (p.Gly313Ser)Autism [RCV003328506]uncertain significance22703710527037105Human2name
401867697CV2780808single nucleotide variantNM_017727.5(TMEM214):c.470T>G (p.Leu157Arg)not specified [RCV004352126]uncertain significance22703525327035253Humanname
401929409CV2815614single nucleotide variantNM_017727.5(TMEM214):c.504T>A (p.Asp168Glu)not provided [RCV003407184]uncertain significance22703559527035595Humanname
405753886CV3336294single nucleotide variantNM_017727.5(TMEM214):c.325C>T (p.Arg109Cys)not specified [RCV004467521]uncertain significance22703424027034240Humanname
405753893CV3336295single nucleotide variantNM_017727.5(TMEM214):c.389G>T (p.Ser130Ile)not specified [RCV004467522]uncertain significance22703517227035172Humanname
405753906CV3336297single nucleotide variantNM_017727.5(TMEM214):c.912G>A (p.Met304Ile)not specified [RCV004467524]uncertain significance22703708027037080Humanname
407526376CV3482599single nucleotide variantNM_017727.5(TMEM214):c.889T>C (p.Tyr297His)not specified [RCV004679621]uncertain significance22703676727036767Humanname
407526379CV3482601single nucleotide variantNM_017727.5(TMEM214):c.358G>A (p.Val120Met)not specified [RCV004679622]uncertain significance22703514127035141Humanname
597754014CV3613703single nucleotide variantNM_017727.5(TMEM214):c.777G>A (p.Met259Ile)not specified [RCV004867505]uncertain significance22703654327036543Humanname
597754018CV3613704single nucleotide variantNM_017727.5(TMEM214):c.658C>T (p.Arg220Cys)not specified [RCV004867506]uncertain significance22703599027035990Humanname
597754022CV3613705single nucleotide variantNM_017727.5(TMEM214):c.920A>G (p.Asn307Ser)not specified [RCV004867507]uncertain significance22703708827037088Humanname
597754041CV3613709single nucleotide variantNM_017727.5(TMEM214):c.850G>A (p.Val284Met)not specified [RCV004867511]uncertain significance22703672827036728Humanname
598213819CV3913732single nucleotide variantNM_017727.5(TMEM214):c.719A>T (p.Lys240Met)not specified [RCV005292395]uncertain significance22703605127036051Humanname
598252184CV3917610single nucleotide variantNM_017727.5(TMEM214):c.737G>A (p.Arg246Lys)not specified [RCV005278042]uncertain significance22703650327036503Humanname
598252190CV3917611single nucleotide variantNM_017727.5(TMEM214):c.482C>T (p.Thr161Met)not specified [RCV005278043]uncertain significance22703526527035265Humanname
598213796CV3917614single nucleotide variantNM_017727.5(TMEM214):c.610A>T (p.Met204Leu)not specified [RCV005292391]uncertain significance22703570127035701Humanname
25317029CV804997single nucleotide variantNM_017727.5(TMEM214):c.899G>A (p.Arg300Gln)Flexion contracture [RCV001007786]uncertain significance22703677727036777Human2name
155923091CV2217549single nucleotide variantNM_017727.5(TMEM214):c.1384G>A (p.Val462Ile)not specified [RCV004090084]uncertain significance22703879227038792Humanname
156280820CV2224254single nucleotide variantNM_017727.5(TMEM214):c.1505G>A (p.Arg502Gln)not specified [RCV004096080]uncertain significance22703914427039144Humanname
156152530CV2245372single nucleotide variantNM_017727.5(TMEM214):c.1805T>G (p.Leu602Arg)not specified [RCV004109167]uncertain significance22704035827040358Humanname
156357923CV2250751single nucleotide variantNM_017727.5(TMEM214):c.1036T>C (p.Tyr346His)not specified [RCV004129626]uncertain significance22703758627037586Humanname
156338663CV2271305single nucleotide variantNM_017727.5(TMEM214):c.1574G>C (p.Ser525Thr)not specified [RCV004136426]uncertain significance22703978927039789Humanname
156005263CV2290309single nucleotide variantNM_017727.5(TMEM214):c.1504C>G (p.Arg502Gly)not specified [RCV004154744]uncertain significance22703914327039143Humanname
156193088CV2299941single nucleotide variantNM_017727.5(TMEM214):c.1024C>G (p.Leu342Val)not specified [RCV004149074]uncertain significance22703757427037574Humanname
156061109CV2323149single nucleotide variantNM_017727.5(TMEM214):c.1352T>C (p.Leu451Pro)not specified [RCV004187553]uncertain significance22703876027038760Humanname
155915577CV2339156single nucleotide variantNM_017727.5(TMEM214):c.1810G>A (p.Asp604Asn)not specified [RCV004187196]uncertain significance22704036327040363Humanname
156343166CV2353360single nucleotide variantNM_017727.5(TMEM214):c.1333C>T (p.Leu445Phe)not specified [RCV004205822]uncertain significance22703874127038741Humanname
329356235CV2442534single nucleotide variantNM_017727.5(TMEM214):c.1229A>C (p.His410Pro)not specified [RCV004266763]uncertain significance22703822227038222Humanname
329360440CV2458745single nucleotide variantNM_017727.5(TMEM214):c.1721G>A (p.Ser574Asn)not specified [RCV004270182]uncertain significance22704012827040128Humanname
329374742CV2470697single nucleotide variantNM_017727.5(TMEM214):c.1227G>C (p.Lys409Asn)not specified [RCV004275946]uncertain significance22703822027038220Humanname
401729367CV2683657single nucleotide variantNM_017727.5(TMEM214):c.1435C>T (p.Arg479Trp)not specified [RCV004284411]uncertain significance22703907427039074Humanname
401749099CV2708467single nucleotide variantNM_017727.5(TMEM214):c.1790G>T (p.Arg597Met)not specified [RCV004313562]uncertain significance22704019727040197Humanname
401883725CV2785747single nucleotide variantNM_017727.5(TMEM214):c.1203C>G (p.Ser401Arg)not specified [RCV004365002]uncertain significance22703819627038196Humanname
405753849CV3336288single nucleotide variantNM_017727.5(TMEM214):c.1230C>A (p.His410Gln)not specified [RCV004467515]uncertain significance22703822327038223Humanname
405753855CV3336289single nucleotide variantNM_017727.5(TMEM214):c.1298A>T (p.Gln433Leu)not specified [RCV004467516]uncertain significance22703870627038706Humanname
405753860CV3336290single nucleotide variantNM_017727.5(TMEM214):c.1514G>C (p.Ser505Thr)not specified [RCV004467517]uncertain significance22703915327039153Humanname
405753866CV3336291single nucleotide variantNM_017727.5(TMEM214):c.1702C>T (p.His568Tyr)not specified [RCV004467518]uncertain significance22704010927040109Humanname
405753880CV3336293single nucleotide variantNM_017727.5(TMEM214):c.1996T>C (p.Trp666Arg)not specified [RCV004467520]uncertain significance22704076327040763Humanname
407458736CV3482600single nucleotide variantNM_017727.5(TMEM214):c.1976A>T (p.Gln659Leu)not specified [RCV004686921]uncertain significance22704074327040743Humanname
597754010CV3613702single nucleotide variantNM_017727.5(TMEM214):c.1652G>A (p.Gly551Asp)not specified [RCV004867504]uncertain significance22704005927040059Humanname
597754027CV3613706single nucleotide variantNM_017727.5(TMEM214):c.1676G>A (p.Arg559Gln)not specified [RCV004867508]uncertain significance22704008327040083Humanname
597754033CV3613707single nucleotide variantNM_017727.5(TMEM214):c.1121C>A (p.Thr374Asn)not specified [RCV004867509]uncertain significance22703767127037671Humanname
597754037CV3613708single nucleotide variantNM_017727.5(TMEM214):c.1529C>T (p.Ser510Phe)not specified [RCV004867510]uncertain significance22703974427039744Humanname
597754053CV3613713single nucleotide variantNM_017727.5(TMEM214):c.1594C>T (p.Leu532Phe)not specified [RCV004867514]uncertain significance22703980927039809Humanname
597754059CV3613714single nucleotide variantNM_017727.5(TMEM214):c.1805T>C (p.Leu602Pro)not specified [RCV004867515]uncertain significance22704035827040358Humanname
597754063CV3613715single nucleotide variantNM_017727.5(TMEM214):c.1994A>T (p.His665Leu)not specified [RCV004867516]uncertain significance22704076127040761Humanname
597754066CV3613716single nucleotide variantNM_017727.5(TMEM214):c.1436G>A (p.Arg479Gln)not specified [RCV004867517]uncertain significance22703907527039075Humanname
597754070CV3613717single nucleotide variantNM_017727.5(TMEM214):c.1960G>C (p.Asp654His)not specified [RCV004867518]uncertain significance22704072727040727Humanname
598213802CV3913727single nucleotide variantNM_017727.5(TMEM214):c.1618T>C (p.Tyr540His)not specified [RCV005292392]uncertain significance22703983327039833Humanname
598252197CV3913728single nucleotide variantNM_017727.5(TMEM214):c.1496A>G (p.His499Arg)not specified [RCV005278044]uncertain significance22703913527039135Humanname
598213807CV3913730single nucleotide variantNM_017727.5(TMEM214):c.1088A>G (p.His363Arg)not specified [RCV005292393]uncertain significance22703763827037638Humanname
598213823CV3913733single nucleotide variantNM_017727.5(TMEM214):c.1451G>T (p.Arg484Leu)not specified [RCV005292396]uncertain significance22703909027039090Humanname
598213791CV3917613single nucleotide variantNM_017727.5(TMEM214):c.1028G>A (p.Cys343Tyr)not specified [RCV005292390]uncertain significance22703757827037578Humanname
15201114CV697508single nucleotide variantNM_017727.5(TMEM214):c.1276G>C (p.Glu426Gln)not provided [RCV000957528]benign22703851527038515Humanname