All variants in the NTRK1 gene

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

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 2 c.107delA r.(?) p.(Asn36Thrfs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.156811970delA Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000003 - Y Yang
./. 3 c.163C>T r.(?) p.(Arg55Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156834186C>T Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000016 - Y Yang
./. 3 c.188T>C r.(?) p.(Leu63Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156834211T>C Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001) NTRK1_000021 - Y Yang
./. 3i c.198-1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.156834519G>C Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000040 - Y Yang
./. 4i c.269+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.156834592G>A Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000041 - Y Yang
./. 5 c.301_302delTC r.(?) p.(Ser101Leufs*41) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.156836733_156836734delTC Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000006 - Y Yang
./. 6i c.338+1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.156836771G>C Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000042 - Y Yang
./. 6 c.400G>T r.(?) p.(Glu134*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.156837957G>T Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000023 - Y Yang
./. 6 c.436C>T r.(?) p.(Gln146*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.156837993C>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000022 - Y Yang
./. 7i c.484+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.156838042G>A Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000043 - Y Yang
./. 7 c.548T>C r.(?) p.(Leu183Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156838360T>C Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000024 - Y Yang
./. 7i c.761-33T>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.156843392T>A Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000039 - Y Yang
./. 9i c.761-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.156843424G>A Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000044 - Y Yang
./. 9 c.834_840delGCCGGCA r.(?) p.(Gln278Hisfs*154) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.156843498_156843504delGCCGGCA Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000002 - Y Yang
./. 9 c.986A>G r.(?) p.(Tyr329Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.156843650A>G Houlden H1, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.(2001) NTRK1_000018 - Y Yang
./. 9 c.987C>A r.(?) p.(Tyr329*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.156843651C>A Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000025 - Y Yang
./. 9 c.1069_1076dup r.(?) p.(Ile361Argfs*76) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel g.156843733_156843740dup Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M.(2012) NTRK1_000037 - Y Yang
./. 9 c.1072G>A r.(?) p.(Glu358Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.156843736G>A Wieczorek S1, Bergstr?m J, S??f M, K?tting J, Iwarsson E.(2008) NTRK1_000036 - Y Yang
./. 13 c.1414_1415delCG r.(?) p.(Arg472Glyfs*20) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.156845892_156845893delCG Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000009 - Y Yang
./. 13 c.1422_1423insGGGACATC r.(?) p.(Val475Glyfs*39) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel g.156845900_156845901insGGGACATC Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000010 - Y Yang
./. 13 c.1456G>C r.(?) p.(Gly486Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156845934G>C Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000026 - Y Yang
./. 13 c.1474G>A r.(?) p.(Glu492Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.156845952G>A Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M.(2012) NTRK1_000038 - Y Yang
./. 14 c.1552delC r.(?) p.(Arg518Glyfs*104) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.156846219delC Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) NTRK1_000005 - Y Yang
./. 14 c.1621G>C r.(?) p.(Gly541Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156846288G>C Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) NTRK1_000012 - Y Yang
./. 14 c.1621G>C r.(?) p.(Gly541Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156846288G>C Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) NTRK1_000012 - Y Yang
./. 14 c.1646delT r.(?) p.(Leu549Argfs*73) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.156846313delT Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000007 - Y Yang
./. 14 c.1651A>G r.(?) p.(Met551Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.156846318A>G Yotsumoto S1, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.(1999) NTRK1_000019 - Y Yang
./. 15 c.1696C>T r.(?) p.(Arg566*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.156846363C>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000027 - Y Yang
./. 15 c.1702C>T r.(?) p.(His568Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156848918C>T Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000014 - Y Yang
./. 15 c.1730G>T r.(?) p.(Gly577Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156848946G>T Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000015 - Y Yang
./. 15 c.1735G>T r.(?) p.(Glu579*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.156848951G>T Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000001 - Y Yang
./. 15 c.1735G>T r.(?) p.(Glu579*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.156848951G>T Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000001 - Y Yang
./. 15 c.1741G>C r.(?) p.(Val581Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156848957G>C Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000020 - Y Yang
./. 15 c.1741G>C r.(?) p.(Val581Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156848957G>C Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000020 - Y Yang
./. 15 c.1752_1753insT r.(?) p.(Pro585Serfs*12) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel g.156848968_156848969insT Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) NTRK1_000004 - Y Yang
./. 15 c.1837C>T r.(?) p.(Arg613Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156849053C>T Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000028 - Y Yang
./. 15 c.1852C>T r.(?) p.(Arg618Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156849068C>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000029 - Y Yang
./. 15 c.1912G>T r.(?) p.(Asp638Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156849128G>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000030 - Y Yang
./. 15 c.1915A>C r.(?) p.(Ile639Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156849131A>C Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) NTRK1_000031 - Y Yang
./. 16 c.1976C>T r.(?) p.(Pro659Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156849828C>T Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) NTRK1_000017 - Y Yang
./. 16 c.2032G>A r.(?) p.(Gly678Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.156849884G>A Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000032 - Y Yang
./. 16 c.2036T>C r.(?) p.(Val679Ala) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156849888T>C Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000033 - Y Yang
./. 17 c.2163C>A r.(?) p.(Tyr721*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.156851314C>A Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000034 - Y Yang
./. 17 c.2173C>T r.(?) p.(Arg725Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156851324C>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000035 - Y Yang
./. 17 c.2190_2191insT r.(?) p.(Glu731*) VariO:0142 DNA insertion VariO:0015 protein truncation g.156851341_156851342insT Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001) NTRK1_000011 - Y Yang
./. 17 c.2219_2220insT r.(?) p.(Val741Cysfs*91) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel g.156851370_156851371insT Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000008 - Y Yang
./. 17 c.2231G>C r.(?) p.(Arg744Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156851382G>C Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999) NTRK1_000013 - Y Yang
./. 17 c.2231G>C r.(?) p.(Arg744Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.156851382G>C Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999) NTRK1_000013 - Y Yang
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