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112 records found for search term Slc41a1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
152156921CV1630448single nucleotide variantNM_173854.6(SLC41A1):c.993-4A>GNephronophthisis-like nephropathy 2 [RCV002494267]|not provided [RCV002122542]likely benign1205797007205797007Human1name
404994850CV3132542single nucleotide variantNM_173854.6(SLC41A1):c.373-5C>Tnot provided [RCV003827481]likely benign1205801065205801065Humanname
597900617CV3741098single nucleotide variantNM_173854.6(SLC41A1):c.373-4G>Anot provided [RCV005072261]likely benign1205801064205801064Humanname
597950690CV3847026single nucleotide variantNM_173854.6(SLC41A1):c.992+8G>Anot provided [RCV005190197]likely benign1205797896205797896Humanname
597950695CV3847027single nucleotide variantNM_173854.6(SLC41A1):c.992+4G>Cnot provided [RCV005190198]uncertain significance1205797900205797900Humanname
597859740CV3850225single nucleotide variantNM_173854.6(SLC41A1):c.992+9G>Anot provided [RCV005195558]likely benign1205797895205797895Humanname
150472887CV1217254single nucleotide variantNM_173854.6(SLC41A1):c.553-80G>Anot provided [RCV001615549]benign1205799181205799181Humanname
150493272CV1257521deletionNM_173854.6(SLC41A1):c.993-29delnot provided [RCV001675194]benign1205797032205797032Humanname
156289971CV2009621single nucleotide variantNM_173854.6(SLC41A1):c.1357-4C>Gnot provided [RCV002715613]likely benign1205791722205791722Humanname
156091386CV2106146single nucleotide variantNM_173854.6(SLC41A1):c.1207+5C>Tnot provided [RCV002952372]uncertain significance1205795339205795339Humanname
405245833CV3161879single nucleotide variantNM_173854.6(SLC41A1):c.845-14C>Anot provided [RCV003868592]likely benign1205798065205798065Humanname
597872384CV3805313single nucleotide variantNM_173854.6(SLC41A1):c.845-17G>Cnot provided [RCV005148591]likely benign1205798068205798068Humanname
150336417CV1170650single nucleotide variantNM_173854.6(SLC41A1):c.1073-34C>Tnot provided [RCV001540981]benign1205795512205795512Human1name
150482579CV1261643single nucleotide variantNM_173854.6(SLC41A1):c.1207+39T>Gnot provided [RCV001686246]benign1205795305205795305Humanname
156093426CV1960098single nucleotide variantNM_173854.6(SLC41A1):c.1073-16G>Anot provided [RCV002570306]likely benign1205795494205795494Humanname
156090536CV1963131single nucleotide variantNM_173854.6(SLC41A1):c.1073-17C>Gnot provided [RCV002570207]likely benign1205795495205795495Humanname
156243363CV2043946single nucleotide variantNM_173854.6(SLC41A1):c.1207+15C>Tnot provided [RCV002805756]benign1205795329205795329Humanname
597880438CV3744821single nucleotide variantNM_173854.6(SLC41A1):c.1356+19A>Gnot provided [RCV005069846]likely benign1205794851205794851Humanname
150501064CV1238308single nucleotide variantNM_173854.6(SLC41A1):c.1072+257A>Tnot provided [RCV001656738]benign1205796667205796667Humanname
156449731CV1941990single nucleotide variantNM_173854.6(SLC41A1):c.21G>A (p.Pro7=)not provided [RCV003121857]likely benign1205810421205810421Humanname
597930105CV3837528single nucleotide variantNM_173854.6(SLC41A1):c.27C>T (p.Asp9=)not provided [RCV005185686]likely benign1205810415205810415Humanname
156361916CV2016734single nucleotide variantNM_173854.6(SLC41A1):c.69C>T (p.Cys23=)not provided [RCV002720923]likely benign1205810373205810373Humanname
597923275CV3738599single nucleotide variantNM_173854.6(SLC41A1):c.42C>T (p.Asn14=)not provided [RCV005075007]likely benign1205810400205810400Humanname
156011350CV2096214single nucleotide variantNM_173854.6(SLC41A1):c.168C>T (p.Asn56=)not provided [RCV002909126]likely benign1205810274205810274Humanname
156008336CV2159647single nucleotide variantNM_173854.6(SLC41A1):c.147G>C (p.Val49=)not provided [RCV003017606]likely benign1205810295205810295Humanname
405105130CV3135016single nucleotide variantNM_173854.6(SLC41A1):c.252C>A (p.Gly84=)not provided [RCV003835168]likely benign1205810190205810190Humanname
405709936CV3329241single nucleotide variantNM_173854.6(SLC41A1):c.20C>T (p.Pro7Leu)not specified [RCV004461630]uncertain significance1205810422205810422Humanname
597866398CV3742454single nucleotide variantNM_173854.6(SLC41A1):c.252C>T (p.Gly84=)not provided [RCV005068070]likely benign1205810190205810190Humanname
597850378CV3803230single nucleotide variantNM_173854.6(SLC41A1):c.234C>T (p.Asp78=)not provided [RCV005145347]likely benign1205810208205810208Humanname
150455572CV1220480single nucleotide variantNM_173854.6(SLC41A1):c.339C>T (p.Thr113=)not provided [RCV001612573]benign1205810103205810103Humanname
152132188CV1521957single nucleotide variantNM_173854.6(SLC41A1):c.756C>T (p.Asn252=)not provided [RCV002199470]benign1205798757205798757Human4name
156190329CV1882884single nucleotide variantNM_173854.6(SLC41A1):c.564G>A (p.Thr188=)not provided [RCV003083851]likely benign1205799090205799090Humanname
156343134CV2099719single nucleotide variantNM_173854.6(SLC41A1):c.366C>T (p.Ile122=)not provided [RCV002900592]likely benign1205810076205810076Humanname
156167839CV2102347single nucleotide variantNM_173854.6(SLC41A1):c.813A>T (p.Ser271=)not provided [RCV002891231]benign1205798700205798700Humanname
156042239CV2117899single nucleotide variantNM_173854.6(SLC41A1):c.597C>T (p.Val199=)not provided [RCV002923961]likely benign1205799057205799057Humanname
156155942CV2142383single nucleotide variantNM_173854.6(SLC41A1):c.954G>A (p.Ser318=)not provided [RCV002982820]benign|likely benign1205797942205797942Humanname
156066691CV2270795single nucleotide variantNM_173854.6(SLC41A1):c.28G>A (p.Val10Ile)not provided [RCV003546897]|not specified [RCV004131848]uncertain significance1205810414205810414Humanname
405068186CV2875617single nucleotide variantNM_173854.6(SLC41A1):c.423G>A (p.Ala141=)not provided [RCV003548369]likely benign1205801010205801010Humanname
405125380CV2889628single nucleotide variantNM_173854.6(SLC41A1):c.85G>A (p.Gly29Arg)not provided [RCV003559457]|not specified [RCV005281421]uncertain significance1205810357205810357Humanname
405222856CV2890969single nucleotide variantNM_173854.6(SLC41A1):c.663C>T (p.Ser221=)not provided [RCV003554111]likely benign1205798991205798991Humanname
405252436CV3047236single nucleotide variantNM_173854.6(SLC41A1):c.300G>T (p.Leu100=)not provided [RCV003722217]likely benign1205810142205810142Humanname
405128634CV3054302single nucleotide variantNM_173854.6(SLC41A1):c.747C>T (p.Asn249=)not provided [RCV003724563]likely benign1205798766205798766Humanname
405709953CV3329244single nucleotide variantNM_173854.6(SLC41A1):c.77A>T (p.Asp26Val)not specified [RCV004461633]uncertain significance1205810365205810365Humanname
597908898CV3749467single nucleotide variantNM_173854.6(SLC41A1):c.594C>T (p.Ala198=)not provided [RCV005073315]likely benign1205799060205799060Humanname
597875059CV3766259single nucleotide variantNM_173854.6(SLC41A1):c.492A>G (p.Gly164=)not provided [RCV005108391]likely benign1205799819205799819Humanname
8624871CV79986single nucleotide variantNM_173854.5(SLC41A1):c.423G>C (p.Ala141=)Malignant melanoma [RCV000060062]not provided1205801010205801010Humanname
152119086CV1587554single nucleotide variantNM_173854.6(SLC41A1):c.1161A>G (p.Gln387=)Nephronophthisis-like nephropathy 2 [RCV002494163]|not provided [RCV002081304]benign|likely benign1205795390205795390Human1name
156390049CV1884701single nucleotide variantNM_173854.6(SLC41A1):c.1329C>A (p.Ile443=)not provided [RCV003067920]likely benign1205794897205794897Humanname
156097120CV1906301single nucleotide variantNM_173854.6(SLC41A1):c.156G>T (p.Glu52Asp)not provided [RCV003080453]uncertain significance1205810286205810286Humanname
156209963CV2018822single nucleotide variantNM_173854.6(SLC41A1):c.269C>T (p.Pro90Leu)not provided [RCV002700589]|not specified [RCV004066952]uncertain significance1205810173205810173Humanname
156071089CV2051128single nucleotide variantNM_173854.6(SLC41A1):c.1443C>T (p.Tyr481=)not provided [RCV002797406]likely benign1205791632205791632Humanname
155912809CV2065847single nucleotide variantNM_173854.6(SLC41A1):c.235G>T (p.Val79Phe)not provided [RCV002837836]uncertain significance1205810207205810207Humanname
155932119CV2096133single nucleotide variantNM_173854.6(SLC41A1):c.1371G>A (p.Leu457=)not provided [RCV002903887]benign1205791704205791704Humanname
156205358CV2103680single nucleotide variantNM_173854.6(SLC41A1):c.1323C>T (p.Phe441=)not provided [RCV002931842]benign1205794903205794903Humanname
156022624CV2105846single nucleotide variantNM_173854.6(SLC41A1):c.139G>A (p.Val47Ile)not provided [RCV002923140]likely benign1205810303205810303Humanname
156310138CV2163999single nucleotide variantNM_173854.6(SLC41A1):c.139G>T (p.Val47Leu)not provided [RCV003045982]uncertain significance1205810303205810303Humanname
156312457CV2196372single nucleotide variantNM_173854.6(SLC41A1):c.100G>C (p.Ala34Pro)not specified [RCV004072546]uncertain significance1205810342205810342Humanname
156105273CV2217547single nucleotide variantNM_173854.6(SLC41A1):c.232G>A (p.Asp78Asn)not specified [RCV004090082]uncertain significance1205810210205810210Humanname
155901387CV2294463single nucleotide variantNM_173854.6(SLC41A1):c.295G>A (p.Gly99Arg)not specified [RCV004159962]uncertain significance1205810147205810147Humanname
156356599CV2320819single nucleotide variantNM_173854.6(SLC41A1):c.236T>C (p.Val79Ala)not specified [RCV004172653]uncertain significance1205810206205810206Humanname
401748385CV2698373single nucleotide variantNM_173854.6(SLC41A1):c.191A>T (p.Asp64Val)not specified [RCV004304912]uncertain significance1205810251205810251Humanname
402476713CV3173852single nucleotide variantNM_173854.6(SLC41A1):c.169G>A (p.Ala57Thr)not provided [RCV003875390]uncertain significance1205810273205810273Humanname
405709906CV3329237single nucleotide variantNM_173854.6(SLC41A1):c.128A>T (p.Asp43Val)not specified [RCV004461626]uncertain significance1205810314205810314Humanname
407514843CV3484639single nucleotide variantNM_173854.6(SLC41A1):c.283T>C (p.Ser95Pro)not specified [RCV004674720]uncertain significance1205810159205810159Humanname
597855455CV3758683single nucleotide variantNM_173854.6(SLC41A1):c.1221C>G (p.Arg407=)not provided [RCV005088643]likely benign1205795005205795005Humanname
597974785CV3798571single nucleotide variantNM_173854.6(SLC41A1):c.1011G>A (p.Leu337=)not provided [RCV005144159]likely benign1205796985205796985Humanname
597950081CV3846761single nucleotide variantNM_173854.6(SLC41A1):c.167A>G (p.Asn56Ser)not provided [RCV005189932]|not specified [RCV005283629]uncertain significance1205810275205810275Humanname
598244229CV3911178single nucleotide variantNM_173854.6(SLC41A1):c.235G>A (p.Val79Ile)not specified [RCV005276829]uncertain significance1205810207205810207Humanname
150423100CV1182535single nucleotide variantNM_173854.6(SLC41A1):c.698G>T (p.Gly233Val)Nephronophthisis-like nephropathy 2 [RCV001554331]pathogenic1205798815205798815Human1name
156239502CV1973145single nucleotide variantNM_173854.6(SLC41A1):c.704T>G (p.Ile235Ser)not provided [RCV002597098]|not specified [RCV004867796]uncertain significance1205798809205798809Humanname
156181847CV2020514single nucleotide variantNM_173854.6(SLC41A1):c.623A>G (p.His208Arg)not provided [RCV002710807]uncertain significance1205799031205799031Humanname
156005699CV2041926single nucleotide variantNM_173854.6(SLC41A1):c.618T>A (p.Asp206Glu)not provided [RCV002756419]|not specified [RCV004067941]uncertain significance1205799036205799036Humanname
156235829CV2268043single nucleotide variantNM_173854.6(SLC41A1):c.682G>T (p.Ala228Ser)not specified [RCV004136594]uncertain significance1205798972205798972Humanname
156345299CV2382145single nucleotide variantNM_173854.6(SLC41A1):c.640G>A (p.Ala214Thr)not specified [RCV004228103]uncertain significance1205799014205799014Humanname
329373848CV2447438single nucleotide variantNM_173854.6(SLC41A1):c.920G>A (p.Arg307Gln)not specified [RCV004262712]uncertain significance1205797976205797976Humanname
329361754CV2468274single nucleotide variantNM_173854.6(SLC41A1):c.946T>G (p.Leu316Val)not specified [RCV004275836]uncertain significance1205797950205797950Humanname
405238994CV2996764single nucleotide variantNM_173854.6(SLC41A1):c.970A>C (p.Ile324Leu)not provided [RCV003718686]uncertain significance1205797926205797926Humanname
405203151CV3052848single nucleotide variantNM_173854.6(SLC41A1):c.854G>A (p.Arg285Gln)not provided [RCV003730993]uncertain significance1205798042205798042Humanname
404979936CV3127894single nucleotide variantNM_173854.6(SLC41A1):c.521G>A (p.Arg174Gln)not provided [RCV003825926]uncertain significance1205799790205799790Humanname
405709939CV3329242single nucleotide variantNM_173854.6(SLC41A1):c.635C>T (p.Pro212Leu)not specified [RCV004461631]uncertain significance1205799019205799019Humanname
405709946CV3329243single nucleotide variantNM_173854.6(SLC41A1):c.730C>T (p.Arg244Cys)not specified [RCV004461632]uncertain significance1205798783205798783Humanname
405709960CV3329245single nucleotide variantNM_173854.6(SLC41A1):c.815G>T (p.Gly272Val)not specified [RCV004461634]uncertain significance1205798698205798698Humanname
407514837CV3484637single nucleotide variantNM_173854.6(SLC41A1):c.832T>C (p.Tyr278His)not specified [RCV004674718]uncertain significance1205798681205798681Humanname
407514840CV3484638single nucleotide variantNM_173854.6(SLC41A1):c.598G>A (p.Val200Ile)not specified [RCV004674719]uncertain significance1205799056205799056Humanname
407451742CV3484642single nucleotide variantNM_173854.6(SLC41A1):c.703A>G (p.Ile235Val)not specified [RCV004683753]uncertain significance1205798810205798810Humanname
597766148CV3600073single nucleotide variantNM_173854.6(SLC41A1):c.595G>A (p.Val199Ile)not specified [RCV004870562]uncertain significance1205799059205799059Humanname
597766152CV3600074single nucleotide variantNM_173854.6(SLC41A1):c.665T>C (p.Val222Ala)not specified [RCV004870563]uncertain significance1205798989205798989Humanname
597974398CV3802152single nucleotide variantNM_173854.6(SLC41A1):c.863A>G (p.Tyr288Cys)not provided [RCV005143928]uncertain significance1205798033205798033Humanname
598244236CV3911179single nucleotide variantNM_173854.6(SLC41A1):c.859A>G (p.Ile287Val)not specified [RCV005276830]uncertain significance1205798037205798037Humanname
156233551CV1965820single nucleotide variantNM_173854.6(SLC41A1):c.1465C>G (p.Leu489Val)not provided [RCV002596893]|not specified [RCV004064580]uncertain significance1205791610205791610Humanname
156089356CV2202058single nucleotide variantNM_173854.6(SLC41A1):c.1363A>G (p.Ile455Val)not specified [RCV004075975]uncertain significance1205791712205791712Humanname
156065869CV2376127single nucleotide variantNM_173854.6(SLC41A1):c.1246G>A (p.Val416Met)not specified [RCV004220359]uncertain significance1205794980205794980Humanname
155902403CV2378518single nucleotide variantNM_173854.6(SLC41A1):c.1172G>A (p.Arg391His)not provided [RCV003720747]|not specified [RCV004228569]uncertain significance1205795379205795379Humanname
329361860CV2448103single nucleotide variantNM_173854.6(SLC41A1):c.1520G>A (p.Arg507Gln)not specified [RCV004263325]uncertain significance1205791555205791555Humanname
401854302CV2766478single nucleotide variantNM_173854.6(SLC41A1):c.1232T>C (p.Val411Ala)not specified [RCV004347101]uncertain significance1205794994205794994Humanname
402504357CV2880017single nucleotide variantNM_173854.6(SLC41A1):c.1168C>T (p.Arg390Cys)not provided [RCV003546222]|not specified [RCV004867882]uncertain significance1205795383205795383Humanname
405206648CV3064383single nucleotide variantNM_173854.6(SLC41A1):c.1526C>T (p.Thr509Met)not provided [RCV003731395]uncertain significance1205791549205791549Humanname
405709892CV3329235single nucleotide variantNM_173854.6(SLC41A1):c.1195T>A (p.Phe399Ile)not specified [RCV004461624]uncertain significance1205795356205795356Humanname
405709913CV3329238single nucleotide variantNM_173854.6(SLC41A1):c.1340C>T (p.Thr447Ile)not specified [RCV004461627]uncertain significance1205794886205794886Humanname
405709918CV3329239single nucleotide variantNM_173854.6(SLC41A1):c.1366C>G (p.Leu456Val)not specified [RCV004461628]uncertain significance1205791709205791709Humanname
405709929CV3329240single nucleotide variantNM_173854.6(SLC41A1):c.1370T>G (p.Leu457Arg)not specified [RCV004461629]uncertain significance1205791705205791705Humanname
407451738CV3484641single nucleotide variantNM_173854.6(SLC41A1):c.1451C>T (p.Ala484Val)not specified [RCV004683752]uncertain significance1205791624205791624Humanname
596938360CV3550131single nucleotide variantNM_173854.6(SLC41A1):c.1277C>T (p.Thr426Ile)Nephronophthisis-like nephropathy 2 [RCV004813433]uncertain significance1205794949205794949Human1name
597723215CV3600071single nucleotide variantNM_173854.6(SLC41A1):c.1378G>A (p.Ala460Thr)not specified [RCV004862217]uncertain significance1205791697205791697Humanname
597766144CV3600072single nucleotide variantNM_173854.6(SLC41A1):c.1319T>C (p.Ile440Thr)not specified [RCV004870561]uncertain significance1205794907205794907Humanname
597830548CV3743085single nucleotide variantNM_173854.6(SLC41A1):c.1144G>A (p.Gly382Arg)not provided [RCV005062093]uncertain significance1205795407205795407Humanname
597880749CV3744855indelNM_173854.6(SLC41A1):c.481-16_481-15delinsATnot provided [RCV005069880]uncertain significance1205799845205799846Humanname
597937852CV3774769single nucleotide variantNM_173854.6(SLC41A1):c.1046T>C (p.Met349Thr)not provided [RCV005117802]uncertain significance1205796950205796950Humanname
597903835CV3784543single nucleotide variantNM_173854.6(SLC41A1):c.1070A>G (p.Asn357Ser)not provided [RCV005127594]uncertain significance1205796926205796926Humanname
597934529CV3793600single nucleotide variantNM_173854.6(SLC41A1):c.1406G>T (p.Gly469Val)not provided [RCV005132256]uncertain significance1205791669205791669Humanname
597943473CV3847682single nucleotide variantNM_173854.6(SLC41A1):c.1217C>A (p.Ser406Tyr)not provided [RCV005188410]uncertain significance1205795009205795009Humanname
8624870CV79985single nucleotide variantNM_173854.5(SLC41A1):c.1408C>T (p.Arg470Trp)Malignant melanoma [RCV000060061]not provided1205791667205791667Humanname