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51 records found for search term P4ha3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156222590CV2399786single nucleotide variantNM_182904.5(P4HA3):c.98C>T (p.Ala33Val)not specified [RCV004245597]uncertain significance117431151474311514Humanname
401860796CV2758634single nucleotide variantNM_182904.5(P4HA3):c.44C>T (p.Ala15Val)not specified [RCV004337708]uncertain significance117431156874311568Humanname
597693796CV3578227single nucleotide variantNM_182904.5(P4HA3):c.64G>C (p.Glu22Gln)not specified [RCV004838942]uncertain significance117431154874311548Humanname
156379959CV2211695single nucleotide variantNM_182904.5(P4HA3):c.206A>G (p.Tyr69Cys)not specified [RCV004084581]uncertain significance117430440774304407Humanname
156336108CV2273154single nucleotide variantNM_182904.5(P4HA3):c.167G>T (p.Arg56Leu)not specified [RCV004137789]uncertain significance117431144574311445Humanname
401741377CV2690483single nucleotide variantNM_182904.5(P4HA3):c.179C>G (p.Ala60Gly)not specified [RCV004304250]uncertain significance117431143374311433Humanname
401870176CV2765694single nucleotide variantNM_182904.5(P4HA3):c.241A>G (p.Thr81Ala)not specified [RCV004335701]uncertain significance117430437274304372Humanname
597693749CV3578220single nucleotide variantNM_182904.5(P4HA3):c.155G>A (p.Arg52Lys)not specified [RCV004838937]uncertain significance117431145774311457Humanname
156076074CV2198146single nucleotide variantNM_182904.5(P4HA3):c.635G>A (p.Arg212Gln)not specified [RCV004079735]uncertain significance117429829474298294Humanname
156257626CV2204596single nucleotide variantNM_182904.5(P4HA3):c.751C>T (p.Arg251Trp)not specified [RCV004081704]uncertain significance117428909774289097Humanname
156295792CV2233765single nucleotide variantNM_182904.5(P4HA3):c.983C>A (p.Ser328Tyr)not specified [RCV004100204]uncertain significance117428593674285936Humanname
156275680CV2280081single nucleotide variantNM_182904.5(P4HA3):c.783G>C (p.Lys261Asn)not specified [RCV004146437]uncertain significance117428637874286378Humanname
156162229CV2371677single nucleotide variantNM_182904.5(P4HA3):c.878C>T (p.Pro293Leu)not specified [RCV004216915]uncertain significance117428628374286283Humanname
156220773CV2397337single nucleotide variantNM_182904.5(P4HA3):c.934C>T (p.Pro312Ser)not specified [RCV004238862]uncertain significance117428598574285985Humanname
329394036CV2450036single nucleotide variantNM_182904.5(P4HA3):c.701C>A (p.Ala234Asp)not specified [RCV004269088]uncertain significance117429822874298228Humanname
401746989CV2678979single nucleotide variantNM_182904.5(P4HA3):c.715C>T (p.Arg239Trp)not specified [RCV004294992]uncertain significance117429821474298214Humanname
401773473CV2716583single nucleotide variantNM_182904.5(P4HA3):c.736G>T (p.Ala246Ser)not specified [RCV004327658]uncertain significance117428911274289112Humanname
401881525CV2783865single nucleotide variantNM_182904.5(P4HA3):c.523C>T (p.Arg175Trp)not specified [RCV004360763]uncertain significance117430241374302413Humanname
401898275CV2791142single nucleotide variantNM_182904.5(P4HA3):c.457G>C (p.Gly153Arg)not specified [RCV004356506]uncertain significance117430247974302479Humanname
401867982CV2791143single nucleotide variantNM_182904.5(P4HA3):c.965G>A (p.Cys322Tyr)not specified [RCV004356507]uncertain significance117428595474285954Humanname
405740096CV3371356single nucleotide variantNM_182904.5(P4HA3):c.436G>A (p.Val146Met)not specified [RCV004497605]uncertain significance117430250074302500Humanname
405740101CV3371357single nucleotide variantNM_182904.5(P4HA3):c.692A>G (p.Asp231Gly)not specified [RCV004497606]uncertain significance117429823774298237Humanname
405740105CV3371358single nucleotide variantNM_182904.5(P4HA3):c.752G>A (p.Arg251Gln)not specified [RCV004497607]uncertain significance117428909674289096Humanname
405740112CV3371359single nucleotide variantNM_182904.5(P4HA3):c.830G>A (p.Ser277Asn)not specified [RCV004497608]uncertain significance117428633174286331Humanname
405740119CV3371360single nucleotide variantNM_182904.5(P4HA3):c.971A>G (p.Tyr324Cys)not specified [RCV004497609]uncertain significance117428594874285948Humanname
407478706CV3470002single nucleotide variantNM_182904.5(P4HA3):c.908G>C (p.Gly303Ala)not specified [RCV004663967]uncertain significance117428625374286253Humanname
407517426CV3470003single nucleotide variantNM_182904.5(P4HA3):c.881A>G (p.His294Arg)not specified [RCV004650649]uncertain significance117428628074286280Humanname
597693738CV3578217single nucleotide variantNM_182904.5(P4HA3):c.563G>A (p.Gly188Asp)not specified [RCV004838936]uncertain significance117430237374302373Humanname
597656908CV3578218single nucleotide variantNM_182904.5(P4HA3):c.833C>T (p.Pro278Leu)not specified [RCV004827552]uncertain significance117428632874286328Humanname
597656915CV3578221single nucleotide variantNM_182904.5(P4HA3):c.359A>G (p.Tyr120Cys)not specified [RCV004827553]uncertain significance117430257774302577Humanname
597693770CV3578223single nucleotide variantNM_182904.5(P4HA3):c.767A>G (p.Tyr256Cys)not specified [RCV004838939]uncertain significance117428908174289081Humanname
597693777CV3578225single nucleotide variantNM_182904.5(P4HA3):c.625A>C (p.Ser209Arg)not specified [RCV004838940]uncertain significance117429830474298304Humanname
598163654CV3995912single nucleotide variantNM_182904.5(P4HA3):c.734G>A (p.Cys245Tyr)not specified [RCV005391026]uncertain significance117428911474289114Humanname
598163662CV3995915single nucleotide variantNM_182904.5(P4HA3):c.989C>A (p.Ala330Asp)not specified [RCV005391027]uncertain significance117428593074285930Humanname
598163668CV3995916single nucleotide variantNM_182904.5(P4HA3):c.394G>A (p.Asp132Asn)not specified [RCV005391028]uncertain significance117430254274302542Humanname
8634369CV89589single nucleotide variantNM_182904.4(P4HA3):c.731C>T (p.Ser244Leu)Malignant melanoma [RCV000069686]not provided117428911774289117Humanname
156399072CV2194965single nucleotide variantNM_182904.5(P4HA3):c.1063G>A (p.Val355Ile)not specified [RCV004075486]uncertain significance117428585674285856Humanname
156038184CV2239679single nucleotide variantNM_182904.5(P4HA3):c.1583A>G (p.His528Arg)not specified [RCV004108226]uncertain significance117426730074267300Humanname
329378276CV2463608single nucleotide variantNM_182904.5(P4HA3):c.1049T>G (p.Leu350Arg)not specified [RCV004277406]uncertain significance117428587074285870Humanname
401718780CV2704800single nucleotide variantNM_182904.5(P4HA3):c.1541C>G (p.Pro514Arg)not specified [RCV004307392]uncertain significance117426816874268168Humanname
401896374CV2781176single nucleotide variantNM_182904.5(P4HA3):c.1129G>A (p.Ala377Thr)not specified [RCV004352224]uncertain significance117427943474279434Humanname
401905379CV2813534single nucleotide variantNM_182904.5(P4HA3):c.1513G>C (p.Asp505His)not provided [RCV003395907]likely benign117426819674268196Humanname
405740080CV3371354single nucleotide variantNM_182904.5(P4HA3):c.1099G>T (p.Ala367Ser)not specified [RCV004497603]uncertain significance117428582074285820Humanname
405740087CV3371355single nucleotide variantNM_182904.5(P4HA3):c.1108T>C (p.Trp370Arg)not specified [RCV004497604]uncertain significance117428581174285811Humanname
407478701CV3470000single nucleotide variantNM_182904.5(P4HA3):c.1516A>G (p.Ser506Gly)not specified [RCV004663966]likely benign117426819374268193Humanname
407517423CV3470001single nucleotide variantNM_182904.5(P4HA3):c.1430C>T (p.Ala477Val)not specified [RCV004650648]uncertain significance117426968974269689Humanname
597693758CV3578222single nucleotide variantNM_182904.5(P4HA3):c.1502G>A (p.Ser501Asn)not specified [RCV004838938]uncertain significance117426820774268207Humanname
597656921CV3578224single nucleotide variantNM_182904.5(P4HA3):c.1450A>T (p.Ser484Cys)not specified [RCV004827554]uncertain significance117426966974269669Humanname
597693787CV3578226single nucleotide variantNM_182904.5(P4HA3):c.1318C>A (p.His440Asn)not specified [RCV004838941]uncertain significance117427700274277002Humanname
598184525CV3995913single nucleotide variantNM_182904.5(P4HA3):c.1331C>A (p.Ala444Asp)not specified [RCV005395460]uncertain significance117427698974276989Humanname
8627127CV82271single nucleotide variantNM_182904.4(P4HA3):c.1540C>T (p.Pro514Ser)Malignant melanoma [RCV000062350]not provided117426816974268169Humanname