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Variants search result for Homo sapiens
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66 records found for search term Adck2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405276396CV3206678single nucleotide variantNM_052853.4(ADCK2):c.933+1G>CADCK2-related disorder [RCV003917118]likely benign7140674264140674264Humanname , trait , alternate_id
401922772CV2823188single nucleotide variantNM_052853.4(ADCK2):c.51G>A (p.Arg17=)not provided [RCV003434146]likely benign7140673381140673381Humanname
405704304CV3243645single nucleotide variantNM_052853.4(ADCK2):c.17G>T (p.Arg6Leu)not specified [RCV004375701]uncertain significance7140673347140673347Humanname
329379728CV2456434single nucleotide variantNM_052853.4(ADCK2):c.61C>G (p.Leu21Val)not specified [RCV004275589]uncertain significance7140673391140673391Humanname
156260340CV2277909single nucleotide variantNM_052853.4(ADCK2):c.256C>G (p.Arg86Gly)not specified [RCV004147315]uncertain significance7140673586140673586Humanname
401753891CV2719101single nucleotide variantNM_052853.4(ADCK2):c.149T>C (p.Val50Ala)not specified [RCV004324775]uncertain significance7140673479140673479Humanname
401922773CV2823189single nucleotide variantNM_052853.4(ADCK2):c.124C>T (p.Leu42Phe)not provided [RCV003434147]likely benign7140673454140673454Humanname
401922774CV2823190single nucleotide variantNM_052853.4(ADCK2):c.1203G>A (p.Thr401=)not provided [RCV003434148]likely benign7140679277140679277Humanname
401922775CV2823191single nucleotide variantNM_052853.4(ADCK2):c.1251C>T (p.Pro417=)not provided [RCV003434149]likely benign7140681083140681083Humanname
405290044CV3205887single nucleotide variantNM_052853.4(ADCK2):c.1866A>T (p.Pro622=)ADCK2-related disorder [RCV003962109]likely benign7140694788140694788Humanname , trait , alternate_id
156277107CV2276961single nucleotide variantNM_052853.4(ADCK2):c.908C>G (p.Thr303Ser)not specified [RCV004140294]uncertain significance7140674238140674238Humanname
156001268CV2296392single nucleotide variantNM_052853.4(ADCK2):c.694C>T (p.Leu232Phe)not specified [RCV004148140]uncertain significance7140674024140674024Humanname
329385771CV2432215single nucleotide variantNM_052853.4(ADCK2):c.675G>T (p.Glu225Asp)not specified [RCV004251147]uncertain significance7140674005140674005Humanname
329388490CV2437457single nucleotide variantNM_052853.4(ADCK2):c.310G>T (p.Gly104Cys)not specified [RCV004256322]uncertain significance7140673640140673640Humanname
401752253CV2682756single nucleotide variantNM_052853.4(ADCK2):c.352C>T (p.Pro118Ser)not specified [RCV004281730]uncertain significance7140673682140673682Humanname
401775549CV2710611single nucleotide variantNM_052853.4(ADCK2):c.878C>G (p.Ala293Gly)not specified [RCV004319527]uncertain significance7140674208140674208Humanname
405271474CV3218969single nucleotide variantNM_052853.4(ADCK2):c.410C>T (p.Ala137Val)ADCK2-related disorder [RCV003971703]likely benign7140673740140673740Humanname , trait , alternate_id
405704438CV3243662single nucleotide variantNM_052853.4(ADCK2):c.370C>T (p.Pro124Ser)not specified [RCV004375718]uncertain significance7140673700140673700Humanname
405704552CV3243676single nucleotide variantNM_052853.4(ADCK2):c.874C>T (p.Arg292Trp)not specified [RCV004375732]uncertain significance7140674204140674204Humanname
407456821CV3423415single nucleotide variantNM_052853.4(ADCK2):c.649G>C (p.Ala217Pro)not specified [RCV004610879]uncertain significance7140673979140673979Humanname
597792497CV3653542single nucleotide variantNM_052853.4(ADCK2):c.812C>T (p.Ser271Leu)not specified [RCV004902655]uncertain significance7140674142140674142Humanname
597798475CV3653573single nucleotide variantNM_052853.4(ADCK2):c.884T>G (p.Val295Gly)not specified [RCV004904669]uncertain significance7140674214140674214Humanname
598213886CV3940940single nucleotide variantNM_052853.4(ADCK2):c.652T>C (p.Tyr218His)not specified [RCV005316449]uncertain significance7140673982140673982Humanname
598213978CV3940960single nucleotide variantNM_052853.4(ADCK2):c.875G>A (p.Arg292Gln)not specified [RCV005316468]likely benign7140674205140674205Humanname
598213999CV3940964single nucleotide variantNM_052853.4(ADCK2):c.606C>A (p.Asn202Lys)not specified [RCV005316472]likely benign7140673936140673936Humanname
598214018CV3940967single nucleotide variantNM_052853.4(ADCK2):c.310G>A (p.Gly104Ser)not specified [RCV005316475]uncertain significance7140673640140673640Humanname
598212923CV4009095single nucleotide variantNM_052853.4(ADCK2):c.997C>T (p.Arg333Ter)not provided [RCV005400778]uncertain significance7140674674140674674Humanname
155919373CV2254856single nucleotide variantNM_052853.4(ADCK2):c.1835A>G (p.Glu612Gly)not specified [RCV004115317]uncertain significance7140694757140694757Humanname
156049667CV2271818single nucleotide variantNM_052853.4(ADCK2):c.1457C>T (p.Pro486Leu)not specified [RCV004130652]uncertain significance7140687141140687141Humanname
156191907CV2289380single nucleotide variantNM_052853.4(ADCK2):c.1186G>A (p.Glu396Lys)not specified [RCV004152345]uncertain significance7140679260140679260Humanname
155973114CV2320940single nucleotide variantNM_052853.4(ADCK2):c.1414A>G (p.Ile472Val)not specified [RCV004172744]likely benign7140687098140687098Humanname
156395501CV2329227single nucleotide variantNM_052853.4(ADCK2):c.1678C>G (p.Leu560Val)not specified [RCV004173973]uncertain significance7140689717140689717Humanname
155902832CV2386348single nucleotide variantNM_052853.4(ADCK2):c.1526G>A (p.Arg509Gln)not specified [RCV004228683]uncertain significance7140687210140687210Humanname
329377700CV2436006single nucleotide variantNM_052853.4(ADCK2):c.1082T>C (p.Ile361Thr)not specified [RCV004255226]uncertain significance7140679156140679156Humanname
329387164CV2436306single nucleotide variantNM_052853.4(ADCK2):c.1615G>A (p.Val539Met)not specified [RCV004251710]uncertain significance7140689654140689654Humanname
329374992CV2470874single nucleotide variantNM_052853.4(ADCK2):c.1564A>G (p.Arg522Gly)not specified [RCV004276078]uncertain significance7140689603140689603Humanname
401729634CV2683746single nucleotide variantNM_052853.4(ADCK2):c.1444T>C (p.Ser482Pro)not specified [RCV004284484]likely benign7140687128140687128Humanname
401725850CV2687307single nucleotide variantNM_052853.4(ADCK2):c.1084G>C (p.Asp362His)not specified [RCV004298241]uncertain significance7140679158140679158Humanname
401733647CV2713164single nucleotide variantNM_052853.4(ADCK2):c.1654C>G (p.Gln552Glu)not specified [RCV004316710]uncertain significance7140689693140689693Humanname
401736662CV2725156single nucleotide variantNM_052853.4(ADCK2):c.1620G>C (p.Glu540Asp)not specified [RCV004319896]uncertain significance7140689659140689659Humanname
401864324CV2767875single nucleotide variantNM_052853.4(ADCK2):c.1463G>A (p.Arg488Gln)not specified [RCV004345983]uncertain significance7140687147140687147Humanname
405703717CV3243570single nucleotide variantNM_052853.4(ADCK2):c.1162C>A (p.Pro388Thr)not specified [RCV004375626]uncertain significance7140679236140679236Humanname
405703763CV3243576single nucleotide variantNM_052853.4(ADCK2):c.1252G>A (p.Val418Met)not specified [RCV004375632]uncertain significance7140681084140681084Humanname
405703787CV3243579single nucleotide variantNM_052853.4(ADCK2):c.1382C>T (p.Ser461Leu)not specified [RCV004375635]uncertain significance7140687066140687066Humanname
405703823CV3243584single nucleotide variantNM_052853.4(ADCK2):c.1389G>C (p.Gln463His)not specified [RCV004375640]uncertain significance7140687073140687073Humanname
405703853CV3243588single nucleotide variantNM_052853.4(ADCK2):c.1394C>T (p.Ala465Val)not specified [RCV004375644]uncertain significance7140687078140687078Humanname
405703872CV3243591single nucleotide variantNM_052853.4(ADCK2):c.1433T>C (p.Val478Ala)not specified [RCV004375647]uncertain significance7140687117140687117Humanname
405703910CV3243596single nucleotide variantNM_052853.4(ADCK2):c.1441C>G (p.Pro481Ala)not specified [RCV004375652]uncertain significance7140687125140687125Humanname
405704077CV3243618single nucleotide variantNM_052853.4(ADCK2):c.1528G>A (p.Ala510Thr)not specified [RCV004375674]uncertain significance7140687212140687212Humanname
405704118CV3243623single nucleotide variantNM_052853.4(ADCK2):c.1603G>A (p.Glu535Lys)not specified [RCV004375679]uncertain significance7140689642140689642Humanname
405704267CV3243641single nucleotide variantNM_052853.4(ADCK2):c.1709C>G (p.Ser570Cys)not specified [RCV004375697]uncertain significance7140690782140690782Humanname
407456797CV3423406single nucleotide variantNM_052853.4(ADCK2):c.1633G>A (p.Glu545Lys)not specified [RCV004610870]uncertain significance7140689672140689672Humanname
407456852CV3423426single nucleotide variantNM_052853.4(ADCK2):c.1024A>G (p.Lys342Glu)not specified [RCV004610890]uncertain significance7140674701140674701Humanname
407456864CV3423433single nucleotide variantNM_052853.4(ADCK2):c.1559G>A (p.Gly520Asp)not specified [RCV004610897]uncertain significance7140689598140689598Humanname
597792469CV3653532single nucleotide variantNM_052853.4(ADCK2):c.1429G>A (p.Val477Met)not specified [RCV004902645]uncertain significance7140687113140687113Humanname
597792526CV3653553single nucleotide variantNM_052853.4(ADCK2):c.1042G>A (p.Glu348Lys)not specified [RCV004902666]uncertain significance7140674719140674719Humanname
597792554CV3653564single nucleotide variantNM_052853.4(ADCK2):c.1205A>G (p.Tyr402Cys)not specified [RCV004902676]uncertain significance7140679279140679279Humanname
597798361CV3653584single nucleotide variantNM_052853.4(ADCK2):c.1691A>G (p.His564Arg)not specified [RCV004904680]uncertain significance7140690764140690764Humanname
597792441CV3657031single nucleotide variantNM_052853.4(ADCK2):c.1132C>T (p.Arg378Trp)not specified [RCV004902635]uncertain significance7140679206140679206Humanname
598213933CV3940950single nucleotide variantNM_052853.4(ADCK2):c.1817C>T (p.Pro606Leu)not specified [RCV005316459]uncertain significance7140694739140694739Humanname
598213988CV3940962single nucleotide variantNM_052853.4(ADCK2):c.1409C>T (p.Ala470Val)not specified [RCV005316470]likely benign7140687093140687093Humanname
598213993CV3940963single nucleotide variantNM_052853.4(ADCK2):c.1096G>A (p.Glu366Lys)not specified [RCV005316471]uncertain significance7140679170140679170Humanname
598214005CV3940965single nucleotide variantNM_052853.4(ADCK2):c.1397A>G (p.Gln466Arg)not specified [RCV005316473]uncertain significance7140687081140687081Humanname
598214011CV3940966single nucleotide variantNM_052853.4(ADCK2):c.1060G>C (p.Glu354Gln)not specified [RCV005316474]uncertain significance7140674737140674737Humanname
598214028CV3940969single nucleotide variantNM_052853.4(ADCK2):c.1772T>C (p.Val591Ala)not specified [RCV005316477]uncertain significance7140694694140694694Humanname
598214034CV3940970single nucleotide variantNM_052853.4(ADCK2):c.1573G>A (p.Glu525Lys)not specified [RCV005316478]uncertain significance7140689612140689612Humanname