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44 records found for search term Coq5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405285227CV3202550single nucleotide variantNM_032314.4(COQ5):c.352+8C>TCOQ5-related disorder [RCV003909809]likely benign12120522206120522206Humanname , trait , alternate_id
15120781CV760109single nucleotide variantNM_032314.4(COQ5):c.771-6G>ACOQ5-related disorder [RCV004758094]|not provided [RCV000918375]likely benign12120504087120504087Human1name , trait , alternate_id
15160517CV777977single nucleotide variantNM_032314.4(COQ5):c.575-7C>GCOQ5-related disorder [RCV003913231]|not provided [RCV000947501]benign12120510130120510130Human1name , trait , alternate_id
151352814CV1326094single nucleotide variantNM_032314.4(COQ5):c.267T>C (p.Gly89=)not provided [RCV001815748]benign|likely benign12120522299120522299Humanname
156184799CV2294901single nucleotide variantNM_032314.4(COQ5):c.10C>T (p.Pro4Ser)not specified [RCV004156053]uncertain significance12120529132120529132Humanname
405268749CV3187118single nucleotide variantNM_032314.4(COQ5):c.156G>T (p.Thr52=)not provided [RCV003887202]likely benign12120528986120528986Humanname
405684895CV3235609single nucleotide variantNM_032314.4(COQ5):c.13G>A (p.Gly5Arg)not specified [RCV004372123]likely benign12120529129120529129Humanname
407456670CV3423353single nucleotide variantNM_032314.4(COQ5):c.23C>A (p.Ala8Asp)not specified [RCV004610817]uncertain significance12120529119120529119Humanname
598234313CV3944991single nucleotide variantNM_032314.4(COQ5):c.17G>A (p.Ser6Asn)not specified [RCV005320062]uncertain significance12120529125120529125Humanname
15151690CV738491single nucleotide variantNM_032314.4(COQ5):c.16A>G (p.Ser6Gly)COQ5-related disorder [RCV003950574]|not provided [RCV000901416]likely benign12120529126120529126Human1name , trait , alternate_id
329377957CV2436090single nucleotide variantNM_032314.4(COQ5):c.31A>C (p.Ser11Arg)not specified [RCV004255306]uncertain significance12120529111120529111Humanname
401726197CV2695601single nucleotide variantNM_032314.4(COQ5):c.86T>C (p.Leu29Pro)not specified [RCV004299421]uncertain significance12120529056120529056Humanname
405288046CV3218057single nucleotide variantNM_032314.4(COQ5):c.312G>A (p.Pro104=)COQ5-related disorder [RCV003982181]benign12120522254120522254Humanname , trait , alternate_id
405289990CV3219175single nucleotide variantNM_032314.4(COQ5):c.333T>G (p.Leu111=)COQ5-related disorder [RCV003962070]likely benign12120522233120522233Humanname , trait , alternate_id
598234301CV3944989single nucleotide variantNM_032314.4(COQ5):c.61A>T (p.Met21Leu)not specified [RCV005320060]uncertain significance12120529081120529081Humanname
15196685CV768908single nucleotide variantNM_032314.4(COQ5):c.870G>A (p.Arg290=)not provided [RCV000934290]benign12120503982120503982Humanname
155916151CV2281937single nucleotide variantNM_032314.4(COQ5):c.181G>A (p.Glu61Lys)not specified [RCV004138710]uncertain significance12120528961120528961Humanname
156345841CV2356389single nucleotide variantNM_032314.4(COQ5):c.261T>G (p.Ser87Arg)not specified [RCV004206192]uncertain significance12120522305120522305Humanname
405684891CV3235608single nucleotide variantNM_032314.4(COQ5):c.100C>T (p.Pro34Ser)not specified [RCV004372122]uncertain significance12120529042120529042Humanname
405684900CV3235610single nucleotide variantNM_032314.4(COQ5):c.251A>G (p.Asp84Gly)not specified [RCV004372124]uncertain significance12120522315120522315Humanname
407456673CV3423354single nucleotide variantNM_032314.4(COQ5):c.176T>C (p.Val59Ala)not specified [RCV004610818]uncertain significance12120528966120528966Humanname
598234293CV3944988single nucleotide variantNM_032314.4(COQ5):c.189G>C (p.Glu63Asp)not specified [RCV005320059]uncertain significance12120528953120528953Humanname
598234320CV3944992single nucleotide variantNM_032314.4(COQ5):c.193G>T (p.Gly65Trp)not specified [RCV005320063]uncertain significance12120528949120528949Humanname
155961344CV2249697single nucleotide variantNM_032314.4(COQ5):c.461A>C (p.Glu154Ala)not specified [RCV004120681]uncertain significance12120516680120516680Humanname
155940167CV2294036single nucleotide variantNM_032314.4(COQ5):c.596A>T (p.Asp199Val)not specified [RCV004149423]uncertain significance12120510102120510102Humanname
156289711CV2309742single nucleotide variantNM_032314.4(COQ5):c.842A>T (p.Tyr281Phe)not specified [RCV004160868]uncertain significance12120504010120504010Humanname
401724794CV2693421single nucleotide variantNM_032314.4(COQ5):c.497G>A (p.Arg166His)not specified [RCV004295372]likely benign12120516644120516644Humanname
401737441CV2695803single nucleotide variantNM_032314.4(COQ5):c.756T>A (p.Asn252Lys)not specified [RCV004308090]uncertain significance12120504909120504909Humanname
401733895CV2713256single nucleotide variantNM_032314.4(COQ5):c.520A>C (p.Lys174Gln)not specified [RCV004316786]uncertain significance12120516621120516621Humanname
401869189CV2766935single nucleotide variantNM_032314.4(COQ5):c.496C>T (p.Arg166Cys)not specified [RCV004343321]uncertain significance12120516645120516645Humanname
401868364CV2767215single nucleotide variantNM_032314.4(COQ5):c.722G>A (p.Arg241Gln)not specified [RCV004349394]uncertain significance12120504943120504943Humanname
401882002CV2777812single nucleotide variantNM_032314.4(COQ5):c.934G>A (p.Glu312Lys)not specified [RCV004346001]uncertain significance12120503834120503834Humanname
401943446CV2840046single nucleotide variantNM_032314.4(COQ5):c.314T>C (p.Leu105Pro)not provided [RCV003456833]likely benign12120522252120522252Humanname
405684906CV3235611single nucleotide variantNM_032314.4(COQ5):c.481T>C (p.Ser161Pro)not specified [RCV004372125]likely benign12120516660120516660Humanname
405684912CV3235612single nucleotide variantNM_032314.4(COQ5):c.491G>A (p.Gly164Glu)not specified [RCV004372126]uncertain significance12120516650120516650Humanname
407456664CV3423351single nucleotide variantNM_032314.4(COQ5):c.307C>G (p.His103Asp)not specified [RCV004610815]uncertain significance12120522259120522259Humanname
407456667CV3423352single nucleotide variantNM_032314.4(COQ5):c.826G>A (p.Gly276Arg)not specified [RCV004610816]uncertain significance12120504026120504026Humanname
407456675CV3423355single nucleotide variantNM_032314.4(COQ5):c.678T>G (p.Asp226Glu)not specified [RCV004610819]uncertain significance12120510020120510020Humanname
597649290CV3654218single nucleotide variantNM_032314.4(COQ5):c.590T>C (p.Leu197Ser)not specified [RCV004910331]uncertain significance12120510108120510108Humanname
597649301CV3654219single nucleotide variantNM_032314.4(COQ5):c.979C>A (p.Leu327Ile)not specified [RCV004910332]uncertain significance12120503789120503789Humanname
598234308CV3944990single nucleotide variantNM_032314.4(COQ5):c.892A>G (p.Lys298Glu)not specified [RCV005320061]uncertain significance12120503876120503876Humanname
15175100CV713382single nucleotide variantNM_032314.4(COQ5):c.395A>G (p.His132Arg)not provided [RCV000972865]likely benign12120516746120516746Humanname
28886416CV859941single nucleotide variantNM_032314.4(COQ5):c.611C>A (p.Pro204His)not provided [RCV001091857]uncertain significance12120510087120510087Humanname
28887464CV859942single nucleotide variantNM_032314.4(COQ5):c.353G>A (p.Gly118Asp)Coenzyme q10 deficiency, primary, 9 [RCV003333133]|not provided [RCV001091858]likely pathogenic|uncertain significance12120516788120516788Human1name