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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


38 records found for search term Guk1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597712342CV3732925insertionGUK1, 25-BP INS, NT66_67Mitochondrial dna depletion syndrome 21 [RCV005052120]pathogenicHuman1name
155998754CV2373331single nucleotide variantNM_001159390.2(GUK1):c.*27G>Cnot specified [RCV004220041]likely benign1228148724228148724Humanname
156094457CV2398835single nucleotide variantNM_001159390.2(GUK1):c.*19G>Anot specified [RCV004245158]likely benign1228148716228148716Humanname
597757412CV3685114single nucleotide variantNM_001159390.2(GUK1):c.*67C>Tnot specified [RCV004925074]uncertain significance1228148764228148764Humanname
401778437CV2709118single nucleotide variantNM_001159390.2(GUK1):c.*133G>Anot specified [RCV004314449]uncertain significance1228148830228148830Humanname
597712349CV3732927single nucleotide variantNM_001159390.2(GUK1):c.61+1G>TMitochondrial dna depletion syndrome 21 [RCV005052122]pathogenic1228140364228140364Human1name
598253610CV3974964single nucleotide variantNM_001159390.2(GUK1):c.*124G>Cnot specified [RCV005346290]uncertain significance1228148821228148821Humanname
598253616CV3974965single nucleotide variantNM_001159390.2(GUK1):c.*136G>Anot specified [RCV005346291]uncertain significance1228148833228148833Humanname
597712358CV3732929single nucleotide variantNM_001159390.2(GUK1):c.2T>G (p.Met1Arg)Mitochondrial dna depletion syndrome 21 [RCV005052124]pathogenic1228140304228140304Human1name
329363686CV2471927single nucleotide variantNM_001159390.2(GUK1):c.23G>T (p.Gly8Val)not specified [RCV004280946]uncertain significance1228140325228140325Humanname
405721292CV3255750single nucleotide variantNM_001159390.2(GUK1):c.20C>G (p.Ala7Gly)not specified [RCV004388707]uncertain significance1228140322228140322Humanname
156168889CV2296501single nucleotide variantNM_001159390.2(GUK1):c.53C>T (p.Pro18Leu)not specified [RCV004154581]uncertain significance1228140355228140355Humanname
597757397CV3685111single nucleotide variantNM_001159390.2(GUK1):c.37G>T (p.Ala13Ser)not specified [RCV004925071]uncertain significance1228140339228140339Humanname
597757401CV3685112single nucleotide variantNM_001159390.2(GUK1):c.645G>A (p.Arg215=)not specified [RCV004925072]uncertain significance1228148685228148685Humanname
597712346CV3732926single nucleotide variantNM_001159390.2(GUK1):c.94G>A (p.Gly32Arg)Mitochondrial dna depletion syndrome 21 [RCV005052121]pathogenic1228145543228145543Human1name
329361885CV2468409single nucleotide variantNM_001159390.2(GUK1):c.199G>C (p.Gly67Arg)not specified [RCV004277724]uncertain significance1228146049228146049Humanname
407513381CV3443676single nucleotide variantNM_001159390.2(GUK1):c.277G>A (p.Glu93Lys)not specified [RCV004627172]uncertain significance1228146901228146901Humanname
597712355CV3732928single nucleotide variantNM_001159390.2(GUK1):c.139C>T (p.Gln47Ter)Mitochondrial dna depletion syndrome 21 [RCV005052123]pathogenic1228145588228145588Human1name
598253620CV3974966single nucleotide variantNM_001159390.2(GUK1):c.191C>T (p.Pro64Leu)not specified [RCV005346292]uncertain significance1228146041228146041Humanname
156380684CV2208351single nucleotide variantNM_001159390.2(GUK1):c.499G>T (p.Val167Leu)not specified [RCV004088784]uncertain significance1228147660228147660Humanname
156044162CV2215907single nucleotide variantNM_001159390.2(GUK1):c.506G>A (p.Arg169Gln)not specified [RCV004096989]uncertain significance1228147667228147667Humanname
156023478CV2233443single nucleotide variantNM_001159390.2(GUK1):c.404A>T (p.Asp135Val)not specified [RCV004106070]uncertain significance1228147495228147495Humanname
156285734CV2292020single nucleotide variantNM_001159390.2(GUK1):c.649G>A (p.Gly217Ser)not specified [RCV004160304]uncertain significance1228148689228148689Humanname
156148694CV2292788single nucleotide variantNM_001159390.2(GUK1):c.530T>C (p.Met177Thr)not specified [RCV004154449]uncertain significance1228147691228147691Humanname
156090527CV2344681single nucleotide variantNM_001159390.2(GUK1):c.461G>A (p.Arg154Gln)not specified [RCV004197448]uncertain significance1228147622228147622Humanname
156078118CV2351087single nucleotide variantNM_001159390.2(GUK1):c.633G>C (p.Lys211Asn)not specified [RCV004213951]uncertain significance1228148673228148673Humanname
156256403CV2374067single nucleotide variantNM_001159390.2(GUK1):c.382G>A (p.Val128Met)not specified [RCV004227189]uncertain significance1228147473228147473Humanname
156188964CV2375455single nucleotide variantNM_001159390.2(GUK1):c.358G>A (p.Val120Met)not specified [RCV004225968]uncertain significance1228147449228147449Humanname
405720300CV3255751single nucleotide variantNM_001159390.2(GUK1):c.300C>A (p.Asn100Lys)not specified [RCV004388708]uncertain significance1228146924228146924Humanname
405720307CV3255752single nucleotide variantNM_001159390.2(GUK1):c.350G>A (p.Arg117His)not specified [RCV004388709]uncertain significance1228147441228147441Humanname
405720316CV3255753single nucleotide variantNM_001159390.2(GUK1):c.367G>A (p.Val123Met)not specified [RCV004388710]uncertain significance1228147458228147458Humanname
597757406CV3685113single nucleotide variantNM_001159390.2(GUK1):c.652G>A (p.Ala218Thr)not specified [RCV004925073]uncertain significance1228148692228148692Humanname
597757416CV3685115single nucleotide variantNM_001159390.2(GUK1):c.349C>G (p.Arg117Gly)not specified [RCV004925075]uncertain significance1228147440228147440Humanname
597757421CV3685116single nucleotide variantNM_001159390.2(GUK1):c.410G>A (p.Arg137Gln)not specified [RCV004925076]uncertain significance1228147501228147501Humanname
597757426CV3685117single nucleotide variantNM_001159390.2(GUK1):c.637G>A (p.Ala213Thr)not specified [RCV004925077]uncertain significance1228148677228148677Humanname
597757431CV3685118single nucleotide variantNM_001159390.2(GUK1):c.396G>C (p.Lys132Asn)not specified [RCV004925078]uncertain significance1228147487228147487Humanname
598253625CV3974967single nucleotide variantNM_001159390.2(GUK1):c.460C>T (p.Arg154Trp)not specified [RCV005346293]uncertain significance1228147621228147621Humanname
598253631CV3974968single nucleotide variantNM_001159390.2(GUK1):c.380G>T (p.Gly127Val)not specified [RCV005346294]uncertain significance1228147471228147471Humanname