Article details

Elliott et al. Circulation Cardiovascular Genetics 2010;3:314-22.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC23F58Vc.172T>Gp.Phe58Val 0/200 DCM Patient also carries DSP I870M variant Mutation details
DSC212A592Vc.1775C>Tp.Ala592Val 0/200 DCM   Mutation details
DSC213Q638Hc.1914G>Cp.Gln638His 0/200 DCM   Mutation details
DSC215E795Gc.2384A>Gp.Glu795Gly 0/200 DCM   Mutation details
DSC216G863Rc.2587G>A p.Gly863Arg 1/200 DCM   Mutation details
DSC216A897fsX900c.2686_2687dupGAp.Ala897LysfsX4 3/200 DCM   Mutation details
DSG23V56Mc.166G>Ap.Val56Met 1/200 DCM   Mutation details
DSG215V1014Ic.3040G>Ap.Val1014Ile 0/200 DCM   Mutation details
DSP15Splicec.2130+1G>Cr.spl? 0/200 DCM Patient also carries PKP2 H877Q variant Mutation details
DSP18I870Mc.2610A>Gp.Ile870Met 0/200 DCM Patient also carries DSC2 F58V variant Mutation details
DSP19S922fsX928c.2765_2766delCAp.Thr922SerfsX7 0/200 DCM   Mutation details
DSP20G939Sc.2815G>Ap.Gly939Ser 0/200 DCM   Mutation details
DSP24V2107Lc.6319G>Cp.Val2107Leu 0/200 DCM   Mutation details
DSP24A2712Tc.8134G>Ap.Ala2712Thr 0/200 DCM Patient carries PKP S140F mutation Mutation details
PKP23S140Tc.418T>Ap.Ser140Thr 0/200 DCM   Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/200 DCM, N=3   Mutation details
PKP23S169Gc.505A>Gp.Ser169Gly 2/400 DCM   Mutation details
PKP23A264Vc.791C>Tp.Ala264Val 0/200 DCM   Mutation details
PKP214H877Qc.2631C>Ap.His877Gln 0/200 DCM Patient carries DSP splice site mutation c.2130+1G>C Mutation details