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63 records found for search term Mrps23
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155911927CV2021703single nucleotide variantNM_016070.4(MRPS23):c.421-8C>Anot provided [RCV002726870]likely benign175783994357839943Humanname
156103118CV2180198single nucleotide variantNM_016070.4(MRPS23):c.44+14G>Cnot provided [RCV003054797]likely benign175784995357849953Humanname
405151189CV2956975single nucleotide variantNM_016070.4(MRPS23):c.45-19G>Anot provided [RCV003670005]likely benign175784942957849429Humanname
405145107CV3141414single nucleotide variantNM_016070.4(MRPS23):c.44+20G>Anot provided [RCV003839530]likely benign175784994757849947Humanname
152157352CV1629857single nucleotide variantNM_016070.4(MRPS23):c.215+14C>Tnot provided [RCV002202823]likely benign175784922657849226Humanname
152134726CV1634320single nucleotide variantNM_016070.4(MRPS23):c.215+12G>Cnot provided [RCV002218558]benign175784922857849228Humanname
156230371CV2115572single nucleotide variantNM_016070.4(MRPS23):c.420+20A>Gnot provided [RCV002932805]likely benign|uncertain significance175784090657840906Humanname
156107666CV1953890single nucleotide variantNM_016070.4(MRPS23):c.6A>C (p.Ala2=)not provided [RCV002571080]likely benign175785000557850005Humanname
156274158CV1971074single nucleotide variantNM_016070.4(MRPS23):c.6A>G (p.Ala2=)not provided [RCV002598189]likely benign175785000557850005Humanname
151857962CV1347538single nucleotide variantNM_016070.4(MRPS23):c.16C>T (p.Leu6=)not provided [RCV002034012]likely benign|uncertain significance175784999557849995Humanname
152116643CV1569675single nucleotide variantNM_016070.4(MRPS23):c.51G>A (p.Arg17=)not provided [RCV002117281]likely benign175784940457849404Humanname
152144560CV1576461single nucleotide variantNM_016070.4(MRPS23):c.36C>T (p.Ile12=)MRPS23-related disorder [RCV003968884]|not provided [RCV002101260]likely benign175784997557849975Human1name , trait , alternate_id
152131852CV1631189single nucleotide variantNM_016070.4(MRPS23):c.63G>T (p.Arg21=)MRPS23-related disorder [RCV003951210]|not provided [RCV002119188]likely benign175784939257849392Human1name , trait , alternate_id
405242633CV2967255deletionNM_016070.4(MRPS23):c.420+11_420+14delnot provided [RCV003684329]likely benign175784091257840915Humanname
152151404CV1578141single nucleotide variantNM_016070.4(MRPS23):c.285C>T (p.Thr95=)not provided [RCV002158249]likely benign175784119157841191Humanname
156387771CV1888193single nucleotide variantNM_016070.4(MRPS23):c.132C>G (p.Pro44=)not provided [RCV003067703]benign175784932357849323Humanname
156331915CV2075824single nucleotide variantNM_016070.4(MRPS23):c.156A>G (p.Arg52=)not provided [RCV002835345]likely benign175784929957849299Humanname
404981493CV3121087single nucleotide variantNM_016070.4(MRPS23):c.207G>T (p.Arg69=)not provided [RCV003826079]likely benign175784924857849248Humanname
405291693CV3205956single nucleotide variantNM_016070.4(MRPS23):c.111C>T (p.Ala37=)MRPS23-related disorder [RCV003964060]|not provided [RCV005064887]likely benign175784934457849344Human1name , trait , alternate_id
597948447CV3800963single nucleotide variantNM_016070.4(MRPS23):c.294G>A (p.Arg98=)not provided [RCV005135363]uncertain significance175784105257841052Humanname
151762059CV1455975single nucleotide variantNM_016070.4(MRPS23):c.41C>T (p.Ser14Phe)not provided [RCV002044396]|not specified [RCV004038806]uncertain significance175784997057849970Humanname
152035894CV1604317single nucleotide variantNM_016070.4(MRPS23):c.408C>T (p.Gly136=)not provided [RCV002087195]benign175784093857840938Humanname
156161724CV1906957single nucleotide variantNM_016070.4(MRPS23):c.37T>A (p.Phe13Ile)not provided [RCV003082920]uncertain significance175784997457849974Humanname
156103077CV2291562single nucleotide variantNM_016070.4(MRPS23):c.61C>G (p.Arg21Gly)not specified [RCV004155864]uncertain significance175784939457849394Humanname
405237966CV2881160single nucleotide variantNM_016070.4(MRPS23):c.480T>C (p.Thr160=)MRPS23-related disorder [RCV003984382]|not provided [RCV003556662]likely benign175783987657839876Human1name , trait , alternate_id
405244326CV3072183single nucleotide variantNM_016070.4(MRPS23):c.438C>T (p.His146=)not provided [RCV003737901]likely benign175783991857839918Humanname
402469660CV3174721single nucleotide variantNM_016070.4(MRPS23):c.453C>T (p.Ser151=)not provided [RCV003873831]likely benign175783990357839903Humanname
405259299CV3194655single nucleotide variantNM_016070.4(MRPS23):c.540T>C (p.Pro180=)MRPS23-related disorder [RCV003894048]likely benign175783981657839816Humanname , trait , alternate_id
405277489CV3195808single nucleotide variantNM_016070.4(MRPS23):c.315G>A (p.Glu105=)MRPS23-related disorder [RCV003904340]|not provided [RCV005101675]likely benign175784103157841031Human1name , trait , alternate_id
405786640CV3374906single nucleotide variantNM_016070.4(MRPS23):c.33C>A (p.Ser11Arg)not specified [RCV004504945]uncertain significance175784997857849978Humanname
405872323CV3398375single nucleotide variantNM_016070.4(MRPS23):c.549G>A (p.Gln183=)not provided [RCV004575376]likely benign175783980757839807Humanname
597872248CV3747141single nucleotide variantNM_016070.4(MRPS23):c.495C>T (p.Asn165=)not provided [RCV005068825]likely benign175783986157839861Humanname
597870699CV3749948single nucleotide variantNM_016070.4(MRPS23):c.474A>G (p.Pro158=)not provided [RCV005068629]likely benign175783988257839882Humanname
15103132CV704248single nucleotide variantNM_016070.4(MRPS23):c.426C>T (p.His142=)not provided [RCV000959419]benign|likely benign175783993057839930Humanname
151832336CV1439150single nucleotide variantNM_016070.4(MRPS23):c.292C>T (p.Arg98Trp)not provided [RCV001976767]|not specified [RCV004042395]uncertain significance175784118457841184Humanname
151827116CV1447329single nucleotide variantNM_016070.4(MRPS23):c.125G>A (p.Arg42Lys)not provided [RCV001870168]uncertain significance175784933057849330Humanname
152036770CV1521760single nucleotide variantNM_016070.4(MRPS23):c.176C>A (p.Pro59His)not provided [RCV002187633]benign175784927957849279Humanname
156003697CV2074781single nucleotide variantNM_016070.4(MRPS23):c.139C>G (p.Gln47Glu)not provided [RCV002843528]uncertain significance175784931657849316Humanname
329375862CV2441168single nucleotide variantNM_016070.4(MRPS23):c.205C>T (p.Arg69Trp)not specified [RCV004263564]uncertain significance175784925057849250Humanname
401750337CV2715596single nucleotide variantNM_016070.4(MRPS23):c.218A>G (p.Lys73Arg)not specified [RCV004326986]uncertain significance175784125857841258Humanname
405218564CV2907307single nucleotide variantNM_016070.4(MRPS23):c.166G>A (p.Ala56Thr)not provided [RCV003567981]likely benign175784928957849289Humanname
407474762CV3450427single nucleotide variantNM_016070.4(MRPS23):c.184G>A (p.Asp62Asn)not specified [RCV004638237]uncertain significance175784927157849271Humanname
408367036CV3511351single nucleotide variantNM_016070.4(MRPS23):c.241G>A (p.Gly81Ser)MRPS23-related disorder [RCV004757728]likely benign175784123557841235Humanname , trait , alternate_id
597634476CV3557409single nucleotide variantNM_016070.4(MRPS23):c.157T>C (p.Tyr53His)not specified [RCV004830979]uncertain significance175784929857849298Humanname
597634480CV3557410single nucleotide variantNM_016070.4(MRPS23):c.109G>A (p.Ala37Thr)not specified [RCV004830980]uncertain significance175784934657849346Humanname
598213297CV3993516single nucleotide variantNM_016070.4(MRPS23):c.118C>T (p.Pro40Ser)not specified [RCV005378323]uncertain significance175784933757849337Humanname
598213305CV3993517single nucleotide variantNM_016070.4(MRPS23):c.148C>G (p.Arg50Gly)not specified [RCV005378324]uncertain significance175784930757849307Humanname
38457521CV962273single nucleotide variantNM_016070.4(MRPS23):c.119C>G (p.Pro40Arg)Combined oxidative phosphorylation deficiency 46 [RCV001250729]pathogenic175784933657849336Human1name
40886746CV974062single nucleotide variantNM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)Combined oxidative phosphorylation deficiency 46 [RCV003135907]|Inborn genetic diseases [RCV001265976]|not provided [RCV003770385]conflicting interpretations of pathogenicity|uncertain significance175784933657849336Human2name
151856743CV1401928single nucleotide variantNM_016070.4(MRPS23):c.438C>G (p.His146Gln)not provided [RCV002017273]uncertain significance175783991857839918Humanname
151880817CV1421592single nucleotide variantNM_016070.4(MRPS23):c.412G>A (p.Ala138Thr)not provided [RCV001886453]uncertain significance175784093457840934Humanname
156165388CV1907708single nucleotide variantNM_016070.4(MRPS23):c.400C>T (p.Arg134Ter)not provided [RCV003083054]uncertain significance175784094657840946Humanname
156165545CV2196146single nucleotide variantNM_016070.4(MRPS23):c.445C>T (p.Arg149Trp)not specified [RCV004073506]likely benign175783991157839911Humanname
155981630CV2337068single nucleotide variantNM_016070.4(MRPS23):c.539C>G (p.Pro180Arg)not specified [RCV004192832]uncertain significance175783981757839817Humanname
329389985CV2457409single nucleotide variantNM_016070.4(MRPS23):c.368A>G (p.Lys123Arg)not specified [RCV004267237]uncertain significance175784097857840978Humanname
401762589CV2714201single nucleotide variantNM_016070.4(MRPS23):c.486G>T (p.Leu162Phe)not specified [RCV004317434]uncertain significance175783987057839870Humanname
405206742CV3120395single nucleotide variantNM_016070.4(MRPS23):c.337G>T (p.Asp113Tyr)not provided [RCV003822729]uncertain significance175784100957841009Humanname
405786670CV3374911single nucleotide variantNM_016070.4(MRPS23):c.345G>T (p.Glu115Asp)not specified [RCV004504950]uncertain significance175784100157841001Humanname
405786698CV3374917single nucleotide variantNM_016070.4(MRPS23):c.416G>A (p.Arg139Lys)not specified [RCV004504956]uncertain significance175784093057840930Humanname
405786714CV3374920single nucleotide variantNM_016070.4(MRPS23):c.499A>G (p.Thr167Ala)not specified [RCV004504959]uncertain significance175783985757839857Humanname
407474754CV3450425single nucleotide variantNM_016070.4(MRPS23):c.439G>A (p.Val147Ile)not specified [RCV004638235]uncertain significance175783991757839917Humanname
597634495CV3557413single nucleotide variantNM_016070.4(MRPS23):c.431G>C (p.Gly144Ala)not specified [RCV004830983]uncertain significance175783992557839925Humanname
156312908CV1896492indelNM_016070.4(MRPS23):c.539_540delinsGG (p.Pro180Arg)not provided [RCV003088554]uncertain significance175783981657839817Humanname