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37 records found for search term Kcnj16
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150471550CV1281011deletionNM_170741.4(KCNJ16):c.*150delnot provided [RCV001713209]benign177013349470133494Humanname
13525919CV506140single nucleotide variantNM_170741.4(KCNJ16):c.-191+1=not provided [RCV004710155]|not specified [RCV000603542]benign177010076770100767Humanname
150336315CV1165106single nucleotide variantNM_170741.4(KCNJ16):c.-94+77C>Tnot provided [RCV001530790]benign177013105270131052Humanname
150471544CV1281010single nucleotide variantNM_170741.4(KCNJ16):c.-94+74T>Anot provided [RCV001713208]benign177013104970131049Humanname
150514844CV1217293deletionNM_170741.4(KCNJ16):c.-94+234delnot provided [RCV001608197]benign177013119570131195Humanname
150462127CV1264692duplicationNM_170741.4(KCNJ16):c.-94+234dupnot provided [RCV001682316]benign177013119470131195Humanname
150541423CV1306341single nucleotide variantNM_170741.4(KCNJ16):c.-94+219C>Anot provided [RCV001767963]likely benign177013119470131194Humanname
150470730CV1258648single nucleotide variantNM_170741.4(KCNJ16):c.-299-141T>Cnot provided [RCV001684193]benign177010051770100517Humanname
150495998CV1283133single nucleotide variantNM_170741.4(KCNJ16):c.-190-229A>Gnot provided [RCV001717517]benign177013065070130650Humanname
155267591CV1704991single nucleotide variantNM_170741.4(KCNJ16):c.-190-164A>Gnot provided [RCV002285596]likely benign177013071570130715Humanname
150479084CV1221446single nucleotide variantNM_170741.4(KCNJ16):c.-191+7733A>Cnot provided [RCV001616525]benign177010849970108499Humanname
150486502CV1262585single nucleotide variantNM_170741.4(KCNJ16):c.-191+7669G>Anot provided [RCV001686982]benign177010843570108435Humanname
405718263CV3227716single nucleotide variantNM_170741.4(KCNJ16):c.12C>G (p.Tyr4Ter)Hypokalemic tubulopathy and deafness [RCV003992057]likely pathogenic177013209970132099Human1name
150500810CV1224863single nucleotide variantNM_170741.4(KCNJ16):c.672A>C (p.Thr224=)not provided [RCV001620695]benign177013275970132759Humanname
150494134CV1257698single nucleotide variantNM_170741.4(KCNJ16):c.31A>G (p.Ile11Val)not provided [RCV001675371]benign177013211870132118Humanname
405854165CV3392877single nucleotide variantNM_170741.4(KCNJ16):c.360G>A (p.Gly120=)not specified [RCV004527034]likely benign177013244770132447Humanname
150332244CV1163801single nucleotide variantNM_170741.4(KCNJ16):c.191C>T (p.Thr64Ile)Hypokalemic tubulopathy and deafness [RCV001528166]pathogenic177013227870132278Human1name
151235110CV1318370insertionNM_170741.4(KCNJ16):c.-94+218_-94+219insAnot provided [RCV001794693]benign177013119370131194Humanname
405853483CV3392871single nucleotide variantNM_170741.4(KCNJ16):c.255G>A (p.Trp85Ter)Hypokalemic tubulopathy and deafness [RCV004579631]pathogenic177013234270132342Human1name
598122987CV3890137single nucleotide variantNM_170741.4(KCNJ16):c.142A>T (p.Lys48Ter)not provided [RCV005250656]uncertain significance177013222970132229Humanname
15173078CV715658single nucleotide variantNM_170741.4(KCNJ16):c.1233A>G (p.Arg411=)not provided [RCV000972542]benign177013332070133320Humanname
150332236CV1163796single nucleotide variantNM_170741.4(KCNJ16):c.409C>T (p.Arg137Cys)Hypokalemic tubulopathy and deafness [RCV001528161]pathogenic177013249670132496Human1name
150332238CV1163797single nucleotide variantNM_170741.4(KCNJ16):c.526C>T (p.Arg176Ter)Hypokalemic tubulopathy and deafness [RCV001528162]pathogenic177013261370132613Human1name
150332239CV1163798single nucleotide variantNM_170741.4(KCNJ16):c.395T>G (p.Ile132Arg)Hypokalemic tubulopathy and deafness [RCV001528163]pathogenic177013248270132482Human1name
150332241CV1163799single nucleotide variantNM_170741.4(KCNJ16):c.749C>T (p.Pro250Leu)Hypokalemic tubulopathy and deafness [RCV001528164]pathogenic177013283670132836Human1name
150332243CV1163800single nucleotide variantNM_170741.4(KCNJ16):c.404G>C (p.Gly135Ala)Hypokalemic tubulopathy and deafness [RCV001528165]pathogenic177013249170132491Human1name
401725785CV2735958single nucleotide variantNM_170741.4(KCNJ16):c.409C>G (p.Arg137Gly)not provided [RCV003312402]likely pathogenic177013249670132496Humanname
401907165CV2797888single nucleotide variantNM_170741.4(KCNJ16):c.467T>G (p.Leu156Ter)KCNJ16-related disorder [RCV003422437]likely pathogenic177013255470132554Humanname , trait , alternate_id
405718269CV3227717single nucleotide variantNM_170741.4(KCNJ16):c.397G>T (p.Gly133Ter)Hypokalemic tubulopathy and deafness [RCV003992058]likely pathogenic177013248470132484Human1name
405868006CV3401389single nucleotide variantNM_170741.4(KCNJ16):c.664C>T (p.Arg222Cys)Brugada syndrome 1 [RCV004577698]uncertain significance177013275170132751Human1name
597655437CV3552154single nucleotide variantNM_170741.4(KCNJ16):c.904C>T (p.Arg302Ter)Hypokalemic tubulopathy and deafness [RCV004821012]likely pathogenic177013299170132991Human1name
617154569CV4022314single nucleotide variantNM_170741.4(KCNJ16):c.401A>G (p.Tyr134Cys)not provided [RCV005429670]uncertain significance177013248870132488Humanname
8628065CV83209single nucleotide variantNM_018658.2(KCNJ16):c.899C>T (p.Ala300Val)Malignant melanoma [RCV000063289]not provided177013288170132881Humanname
8636323CV91546single nucleotide variantNM_018658.2(KCNJ16):c.315G>A (p.Trp105Ter)Malignant melanoma [RCV000071644]not provided177013229770132297Humanname
407426193CV3409763single nucleotide variantNM_170741.4(KCNJ16):c.1067C>T (p.Ala356Val)not provided [RCV004585695]uncertain significance177013315470133154Humanname
597833680CV3735668single nucleotide variantNM_170741.4(KCNJ16):c.1229A>T (p.Asn410Ile)not provided [RCV005063530]uncertain significance177013331670133316Humanname
401913567CV2801830duplicationNM_170741.4(KCNJ16):c.397_399dup (p.Gly133_Tyr134insGly)KCNJ16-related disorder [RCV003400166]likely pathogenic|uncertain significance177013248270132483Humanname , trait , alternate_id