Article details

Baskin et al. Human Genetics 2013;132:1245-1252.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC26M211fsX221c.631-2A>Gp.Ile211MetfsX11 0/0 TFC= N=1   Mutation details
DSC211Splicec.1521G>Ar.spl? 0/854 TFC+   Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/0 TFC+ N=1   Mutation details
DSG215S1021LfsX1036c.3061_3062delAGp.S1021LfsX16 0/854 TFC+   Mutation details
DSP7N274fsX288c.818_819insAp.Asn274GlufsX15 0/854     Mutation details
DSP11E430Xc.1288G>Tp.Glu430X 0/854 TFC+   Mutation details
DSP23Q1262Xc.3784C>Tp.Gln1262X 0/854 TFC+   Mutation details
DSP24Q1810Xc.5428C>Tp.Gln1810X 0/854 TFC+   Mutation details
DSP3'UTRUTRc.*9T>A- 0/0 TFC+ carries E142K in TMEM43 Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+, N=1   Mutation details
PKP25Q393Xc.1177C>Tp.Gln393X 0/854 TFC+   Mutation details
PKP25R413Xc.1237C>Tp.Arg413X 0/0 TFC+, N=1   Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/0 TFC+, N=1   Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/0 TFC+, N=1   Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+, N=5   Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/0 TFC+, N=4   Mutation details
PKP211R739fsX741c.2216_2217delATp.His739ArgfsX3 0/854 TFC+   Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0 TFC+, N=2   Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 TFC+, N=2   Mutation details
PKP213N852fsX930c.2554delGp.Glu852AsnfsX79 0/0 TFC+ N=1   Mutation details
TMEM433A57Tc.169G>Ap.Ala57Thr 0/854 TFC+  Mutation details
TMEM435E142Kc.424G>Ap.Glu142Lys 0/854 TFC+ Also carried c*9T>A in DSP Mutation details
TMEM4310T277Sc.829A>T or c.830G>Cp.Arg277Ser 1/854 TFC+, N=1 Also carries N26 in PKP2 Mutation details
TMEM4311R312Wc.934C>Tp.Arg312Trp 0/854 TFC+, N=1   Mutation details
TMEM4312S358Lc.1073C>Tp.Ser358Leu 0/0 TFC+, N=6 1 patient: the mutation is de novo Mutation details
TMEM4312Y371Hc.1111T>Cp.Tyr371His 0/854 TFC+   Mutation details