Full data view for gene GDAP1

Information The variants shown are described using the NM_018972.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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AscendingDNA change (cDNA)     

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./. 1 c.92G>A r.(?) p.(Trp31*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation Unknown g.75262788G>A Baxter RV1, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.(2002) GDAP1_000001 - ? ? HMSN Baxter RV1, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.(2002) - - 1 Y Yang
./. 2 c.349_350insT r.(?) p.(Tyr117Leufs*13) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.75272410_75272411insT Senderek J1, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Sch?neborn S, Zerres K, Schr?der JM.(2003) GDAP1_000013 - ? ? HMSN Senderek J1, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Sch?neborn S, Zerres K, Schr?der JM.(2003) - - 1 Y Yang
./. 3 c.358C>T r.(?) p.(Arg120Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.75272419C>T Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F.(2005) GDAP1_000006 - ? ? HMSN Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F.(2005) - - 1 Y Yang
./. 3 c.469A>C r.(?) p.(Thr157Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.75272530A>C Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F.(2005) GDAP1_000007 - ? ? HMSN Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F.(2005) - - 1 Y Yang
./. 3 c.482G>A r.(?) p.(Arg161His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.75272543G>A Baxter RV1, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.(2002) GDAP1_000003 - ? ? HMSN Baxter RV1, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.(2002) - - 1 Y Yang
./. 4 c.487C>T r.(?) p.(Gln163*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.75274121C>T Cuesta A1, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F.(2002) GDAP1_000004 - ? ? HMSN Cuesta A1, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F.(2002) - - 1 Y Yang
./. 4 c.487C>T r.(?) p.(Gln163*) - - Unknown g.75274121C>T Martin AM et al. (2015) GDAP1_000004 - ? ? HMSN Martin AM et al. (2015) - - 1 XY Liu
./. 4i c.579+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.75274214G>A Senderek J1, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Sch?neborn S, Zerres K, Schr?der JM.(2003) GDAP1_000014 - ? ? HMSN Senderek J1, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Sch?neborn S, Zerres K, Schr?der JM.(2003) - - 1 Y Yang
./. 5 c.581C>A r.(?) p.(Ser194*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.75275175C>A Baxter RV1, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.(2002) GDAP1_000002 - ? ? HMSN Baxter RV1, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM.(2002) - - 1 Y Yang
./. 5 c.652C>G r.(?) p.(Gln218Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.75275246C>G Chung KW1, Kim SM, Sunwoo IN, Cho SY, Hwang SJ, Kim J, Kang SH, Park KD, Choi KG, Choi IS, Choi BO.(2008) GDAP1_000009 - ? ? HMSN Chung KW1, Kim SM, Sunwoo IN, Cho SY, Hwang SJ, Kim J, Kang SH, Park KD, Choi KG, Choi IS, Choi BO.(2008) - - 1 Y Yang
./. 5 c.678A>T r.(?) p.(Arg226Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.75275272A>T Crimella C1, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.(2010) GDAP1_000012 - ? ? HMSN Crimella C1, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.(2010) - - 1 Y Yang
./. 5 c.692C>T r.(?) p.(Pro231Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.75275286C>T Xin B1, Puffenberger E, Nye L, Wiznitzer M, Wang H.(2008) GDAP1_000010 - ? ? HMSN Xin B1, Puffenberger E, Nye L, Wiznitzer M, Wang H.(2008) - - 1 Y Yang
./. 6 c.715C>T r.(?) p.(Leu239Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.75276240C>T Kabzinska D1, Drac H, Rowinska-Marcinska K, Fidzianska A, Kochanski A, Hausmanowa-Petrusewicz I.(2006) GDAP1_000008 - ? ? HMSN Kabzinska D1, Drac H, Rowinska-Marcinska K, Fidzianska A, Kochanski A, Hausmanowa-Petrusewicz I.(2006) - - 1 Y Yang
./. 6 c.719G>A r.(?) p.(Cys240Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.75276244G>A Cassereau J1, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P.(2009) GDAP1_000011 - ? ? HMSN Cassereau J1, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P.(2009) - - 1 Y Yang
./. 6 c.844C>T r.(?) p.(Arg282Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.75276369C>T Nelis E1, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabre?ls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V.(2002) GDAP1_000005 - ? ? HMSN "Nelis E1, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabre?ls-Festen AA, Verellen C, Tan E, Demirci M, De Jonghe P(2002) - - 1 Y Yang
./. 6 c.863_864insT r.(?) p.(Phe289Ilefs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.75276388_75276389insT Cuesta A1, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F.(2002) GDAP1_000015 - ? ? HMSN Cuesta A1, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F.(2002) - - 1 Y Yang
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