Full data view for gene FGD4

Information The variants shown are described using the NM_139241.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

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./. 5 c.670C>T r.(?) p.(Arg224*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.32751500C>T Stendel C1, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J(2007) FGD4_000001 - ? ? HMSN Stendel C1, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J(2007) - - 1 Y Yang
./. 6 c.823C>T r.(?) p.(Arg275*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.32754344C>T Houlden H1, Hammans S, Katifi H, Reilly MM.(2009) FGD4_000005 - ? ? HMSN Houlden H1, Hammans S, Katifi H, Reilly MM.(2009) - - 1 Y Yang
./. 7 c.893T>C r.(?) p.(Met298Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.32755151T>C De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N.(2005) FGD4_000004 - ? ? HMSN De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N.(2005) - - 1 Y Yang
./. 7 c.893T>G r.(?) p.(Met298Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.32755151T>G De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N.(2005) FGD4_000002 - ? ? HMSN De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N.(2005) - - 1 Y Yang
./. 13 c.1626_1627delAG r.(?) p.(Glu543Glyfs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.32777993_32777994delAG Stendel C1, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J(2007) FGD4_000006 - ? ? HMSN Stendel C1, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J(2007) - - 1 Y Yang
./. 14 c.1756G>T r.(?) p.(Gly586*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.32778708G>T De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N.(2005) FGD4_000003 - ? ? HMSN De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Mégarbané A, Lévy N.(2005) - - 1 Y Yang
./. 14i c.1762-2A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.32786481A>G Fabrizi GM1, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P.(2009) FGD4_000007 - ? ? HMSN Fabrizi GM1, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P.(2009) - - 1 Y Yang
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