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81 records found for search term Fnbp4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405271736CV3202928single nucleotide variantNM_015308.5(FNBP4):c.450+8G>AFNBP4-related disorder [RCV003913988]likely benign114775452047754520Humanname , trait , alternate_id
15166381CV730771single nucleotide variantNM_015308.5(FNBP4):c.451-9A>Gnot provided [RCV000882620]likely benign114775311147753111Humanname
15174915CV779548single nucleotide variantNM_015308.5(FNBP4):c.906+10G>Anot provided [RCV000972823]benign114775090647750906Humanname
15199840CV760024deletionNM_015308.5(FNBP4):c.2009-2_2012delnot provided [RCV000912669]likely benign114772477547724780Humanname
15172991CV724476single nucleotide variantNM_015308.5(FNBP4):c.33T>C (p.Arg11=)not provided [RCV000883951]benign114776725647767256Humanname
15166095CV738022single nucleotide variantNM_015308.5(FNBP4):c.78G>T (p.Thr26=)not provided [RCV000904367]benign114776721147767211Humanname
598215271CV3973540single nucleotide variantNM_015308.5(FNBP4):c.52T>C (p.Ser18Pro)not specified [RCV005339668]uncertain significance114776723747767237Humanname
15156630CV724475single nucleotide variantNM_015308.5(FNBP4):c.684G>T (p.Thr228=)not provided [RCV000880668]likely benign114775124447751244Humanname
156390349CV2373320single nucleotide variantNM_015308.5(FNBP4):c.104C>A (p.Pro35His)not specified [RCV004220030]uncertain significance114776718547767185Humanname
329393792CV2472127single nucleotide variantNM_015308.5(FNBP4):c.211C>T (p.Pro71Ser)not specified [RCV004283260]uncertain significance114776707847767078Humanname
407510180CV3432492single nucleotide variantNM_015308.5(FNBP4):c.139A>G (p.Ser47Gly)not specified [RCV004626012]uncertain significance114776715047767150Humanname
407510186CV3432494single nucleotide variantNM_015308.5(FNBP4):c.244G>T (p.Val82Phe)not specified [RCV004626014]uncertain significance114776533947765339Humanname
597702510CV3676657single nucleotide variantNM_015308.5(FNBP4):c.253G>T (p.Val85Phe)not specified [RCV004916587]uncertain significance114776533047765330Humanname
598215247CV3973534single nucleotide variantNM_015308.5(FNBP4):c.154T>C (p.Ser52Pro)not specified [RCV005339664]uncertain significance114776713547767135Humanname
598158274CV3973537single nucleotide variantNM_015308.5(FNBP4):c.247C>A (p.Pro83Thr)not specified [RCV005327969]uncertain significance114776533647765336Humanname
15184369CV701792single nucleotide variantNM_015308.5(FNBP4):c.1080A>G (p.Thr360=)not provided [RCV000952689]benign114774622147746221Humanname
156122936CV2233883single nucleotide variantNM_015308.5(FNBP4):c.620A>G (p.Gln207Arg)not specified [RCV004104240]uncertain significance114775293347752933Humanname
156092507CV2302514single nucleotide variantNM_015308.5(FNBP4):c.622T>G (p.Cys208Gly)not specified [RCV004161237]uncertain significance114775293147752931Humanname
11560376CV262316single nucleotide variantNM_015308.5(FNBP4):c.683C>T (p.Thr228Met)not provided [RCV000258039]uncertain significance114775124547751245Humanname
401872442CV2754369single nucleotide variantNM_015308.5(FNBP4):c.901A>G (p.Lys301Glu)not specified [RCV004334544]uncertain significance114775092147750921Humanname
405729636CV3257445single nucleotide variantNM_015308.5(FNBP4):c.307G>A (p.Ala103Thr)not specified [RCV004389803]uncertain significance114776527647765276Humanname
405729645CV3257446single nucleotide variantNM_015308.5(FNBP4):c.524G>A (p.Arg175Gln)not specified [RCV004389804]uncertain significance114775302947753029Humanname
405729653CV3257447single nucleotide variantNM_015308.5(FNBP4):c.832T>C (p.Tyr278His)not specified [RCV004389805]uncertain significance114775099047750990Humanname
405729662CV3257448single nucleotide variantNM_015308.5(FNBP4):c.848C>T (p.Thr283Met)not specified [RCV004389806]uncertain significance114775097447750974Humanname
405729677CV3257450single nucleotide variantNM_015308.5(FNBP4):c.927G>C (p.Gln309His)not specified [RCV004389808]uncertain significance114774637447746374Humanname
407510177CV3432491single nucleotide variantNM_015308.5(FNBP4):c.856G>C (p.Val286Leu)not specified [RCV004626011]uncertain significance114775096647750966Humanname
407510183CV3432493single nucleotide variantNM_015308.5(FNBP4):c.831A>G (p.Ile277Met)not specified [RCV004626013]likely benign114775099147750991Humanname
597702438CV3676650single nucleotide variantNM_015308.5(FNBP4):c.682A>T (p.Thr228Ser)not specified [RCV004916580]uncertain significance114775124647751246Humanname
597702490CV3676655single nucleotide variantNM_015308.5(FNBP4):c.482C>T (p.Ala161Val)not specified [RCV004916585]uncertain significance114775307147753071Humanname
598215251CV3973535single nucleotide variantNM_015308.5(FNBP4):c.835T>A (p.Ser279Thr)not specified [RCV005339665]likely benign114775098747750987Humanname
15171121CV701793single nucleotide variantNM_015308.5(FNBP4):c.829A>G (p.Ile277Val)not provided [RCV000949775]benign114775099347750993Humanname
15172169CV701794single nucleotide variantNM_015308.5(FNBP4):c.374A>G (p.Glu125Gly)not provided [RCV000949969]benign114775460447754604Humanname
15111229CV712865single nucleotide variantNM_015308.5(FNBP4):c.769C>G (p.Gln257Glu)not provided [RCV000961064]benign114775115947751159Humanname
156225874CV2226302single nucleotide variantNM_015308.5(FNBP4):c.1523C>T (p.Ser508Phe)not specified [RCV004099542]uncertain significance114773667447736674Humanname
155927356CV2230772single nucleotide variantNM_015308.5(FNBP4):c.2909G>A (p.Arg970Gln)not specified [RCV004091991]uncertain significance114771998347719983Humanname
156184867CV2239280single nucleotide variantNM_015308.5(FNBP4):c.1951T>G (p.Leu651Val)not specified [RCV004112242]uncertain significance114773143147731431Humanname
156268939CV2240031single nucleotide variantNM_015308.5(FNBP4):c.2195C>G (p.Ala732Gly)not specified [RCV004110813]uncertain significance114772459247724592Humanname
155972848CV2320863single nucleotide variantNM_015308.5(FNBP4):c.2702C>T (p.Thr901Ile)not specified [RCV004172686]uncertain significance114772307947723079Humanname
155910821CV2366673single nucleotide variantNM_015308.5(FNBP4):c.1127T>C (p.Leu376Ser)not specified [RCV004210679]uncertain significance114774617447746174Humanname
329364803CV2443876single nucleotide variantNM_015308.5(FNBP4):c.2504T>C (p.Ile835Thr)not specified [RCV004258213]uncertain significance114772327747723277Humanname
329363177CV2445942single nucleotide variantNM_015308.5(FNBP4):c.1739G>A (p.Arg580Gln)not specified [RCV004270541]uncertain significance114773261847732618Humanname
329388915CV2469630single nucleotide variantNM_015308.5(FNBP4):c.2776G>A (p.Glu926Lys)not specified [RCV004283054]uncertain significance114772300547723005Humanname
401736814CV2679157single nucleotide variantNM_015308.5(FNBP4):c.2316C>G (p.Ser772Arg)not specified [RCV004283889]uncertain significance114772447147724471Humanname
401736556CV2689373single nucleotide variantNM_015308.5(FNBP4):c.2500G>A (p.Gly834Arg)not specified [RCV004306193]uncertain significance114772328147723281Humanname
401738560CV2711981single nucleotide variantNM_015308.5(FNBP4):c.2521C>T (p.Pro841Ser)not specified [RCV004311409]likely benign114772326047723260Humanname
401772034CV2712046single nucleotide variantNM_015308.5(FNBP4):c.1418G>T (p.Ser473Ile)not specified [RCV004311465]uncertain significance114774399147743991Humanname
401750955CV2712298single nucleotide variantNM_015308.5(FNBP4):c.2641A>G (p.Ile881Val)not specified [RCV004313792]uncertain significance114772314047723140Humanname
401769916CV2718947single nucleotide variantNM_015308.5(FNBP4):c.1925G>C (p.Arg642Thr)not specified [RCV004322541]uncertain significance114773145747731457Humanname
401884165CV2762757single nucleotide variantNM_015308.5(FNBP4):c.1079C>T (p.Thr360Ile)not specified [RCV004340313]uncertain significance114774622247746222Humanname
401887331CV2771893single nucleotide variantNM_015308.5(FNBP4):c.2735C>G (p.Pro912Arg)not specified [RCV004344604]uncertain significance114772304647723046Humanname
401880906CV2789424single nucleotide variantNM_015308.5(FNBP4):c.1540G>A (p.Val514Ile)not specified [RCV004360063]uncertain significance114773665747736657Humanname
405729530CV3257433single nucleotide variantNM_015308.5(FNBP4):c.1549A>C (p.Thr517Pro)not specified [RCV004389791]uncertain significance114773664847736648Humanname
405729541CV3257434single nucleotide variantNM_015308.5(FNBP4):c.1912G>A (p.Ala638Thr)not specified [RCV004389792]uncertain significance114773147047731470Humanname
405729552CV3257435single nucleotide variantNM_015308.5(FNBP4):c.2171C>T (p.Pro724Leu)not specified [RCV004389793]uncertain significance114772461647724616Humanname
405729559CV3257436single nucleotide variantNM_015308.5(FNBP4):c.2275A>G (p.Thr759Ala)not specified [RCV004389794]uncertain significance114772451247724512Humanname
405729567CV3257437single nucleotide variantNM_015308.5(FNBP4):c.2315G>A (p.Ser772Asn)not specified [RCV004389795]uncertain significance114772447247724472Humanname
405729575CV3257438single nucleotide variantNM_015308.5(FNBP4):c.2543G>A (p.Gly848Glu)not specified [RCV004389796]uncertain significance114772323847723238Humanname
405729583CV3257439single nucleotide variantNM_015308.5(FNBP4):c.2546T>C (p.Met849Thr)not specified [RCV004389797]uncertain significance114772323547723235Humanname
405729589CV3257440single nucleotide variantNM_015308.5(FNBP4):c.2581A>G (p.Asn861Asp)not specified [RCV004389798]uncertain significance114772320047723200Humanname
405729597CV3257441single nucleotide variantNM_015308.5(FNBP4):c.2719C>A (p.Pro907Thr)not specified [RCV004389799]uncertain significance114772306247723062Humanname
405729623CV3257444single nucleotide variantNM_015308.5(FNBP4):c.2801A>G (p.Asp934Gly)not specified [RCV004389802]uncertain significance114772298047722980Humanname
407510174CV3432490single nucleotide variantNM_015308.5(FNBP4):c.2681G>A (p.Arg894Gln)not specified [RCV004626010]uncertain significance114772310047723100Humanname
408367257CV3508073single nucleotide variantNM_015308.5(FNBP4):c.1409G>A (p.Arg470Lys)FNBP4-related disorder [RCV004758317]uncertain significance114774400047744000Humanname , trait , alternate_id
597702406CV3676647single nucleotide variantNM_015308.5(FNBP4):c.1252T>G (p.Leu418Val)not specified [RCV004916577]uncertain significance114774415747744157Humanname
597702416CV3676648single nucleotide variantNM_015308.5(FNBP4):c.1079C>G (p.Thr360Arg)not specified [RCV004916578]uncertain significance114774622247746222Humanname
597702426CV3676649single nucleotide variantNM_015308.5(FNBP4):c.1966G>A (p.Gly656Ser)not specified [RCV004916579]uncertain significance114773141647731416Humanname
597702450CV3676651single nucleotide variantNM_015308.5(FNBP4):c.2571C>G (p.Ser857Arg)not specified [RCV004916581]uncertain significance114772321047723210Humanname
597702463CV3676652single nucleotide variantNM_015308.5(FNBP4):c.2399T>A (p.Val800Glu)not specified [RCV004916582]uncertain significance114772409347724093Humanname
597702473CV3676653single nucleotide variantNM_015308.5(FNBP4):c.1543C>G (p.Gln515Glu)not specified [RCV004916583]uncertain significance114773665447736654Humanname
597702480CV3676654single nucleotide variantNM_015308.5(FNBP4):c.1391G>A (p.Ser464Asn)not specified [RCV004916584]uncertain significance114774401847744018Humanname
597702500CV3676656single nucleotide variantNM_015308.5(FNBP4):c.1366T>C (p.Trp456Arg)not specified [RCV004916586]uncertain significance114774404347744043Humanname
597702521CV3676658single nucleotide variantNM_015308.5(FNBP4):c.2174C>T (p.Pro725Leu)not specified [RCV004916588]uncertain significance114772461347724613Humanname
598215257CV3973536single nucleotide variantNM_015308.5(FNBP4):c.2003C>A (p.Ser668Tyr)not specified [RCV005339666]uncertain significance114773137947731379Humanname
598158275CV3973538single nucleotide variantNM_015308.5(FNBP4):c.2728C>T (p.Pro910Ser)not specified [RCV005327970]uncertain significance114772305347723053Humanname
598215265CV3973539single nucleotide variantNM_015308.5(FNBP4):c.1493A>G (p.Asn498Ser)not specified [RCV005339667]uncertain significance114773670447736704Humanname
598215278CV3973541single nucleotide variantNM_015308.5(FNBP4):c.1720A>G (p.Asn574Asp)not specified [RCV005339669]uncertain significance114773263747732637Humanname
15199073CV701791single nucleotide variantNM_015308.5(FNBP4):c.2315G>T (p.Ser772Ile)not provided [RCV000956938]benign114772447247724472Humanname
15105922CV712863single nucleotide variantNM_015308.5(FNBP4):c.2380A>G (p.Thr794Ala)not provided [RCV000959978]benign114772411247724112Humanname
15140919CV712864single nucleotide variantNM_015308.5(FNBP4):c.2348C>G (p.Ser783Cys)not provided [RCV000966222]benign114772414447724144Humanname
408383865CV3505934microsatelliteNM_015308.5(FNBP4):c.1894GAA[3] (p.Glu635del)FNBP4-related disorder [RCV004731344]uncertain significance114773147747731479Humanname , trait , alternate_id
15159777CV701795microsatelliteNM_015308.5(FNBP4):c.166ACC[2] (p.Thr58_Thr59del)not provided [RCV000947345]benign114776711247767117Humanname