Unique variants in the ATP7A gene

Information The variants shown are described using the NM_000052.6 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 4 c.1083_1084insA r.? p.? VariO:0142 DNA insertion - g.77245201_77245202insA Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000036 - Y Yang
./. 1 4 c.1089G>T r.(?) p.(Gly1089*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77287051G>T Wang Q1, Ding Y, Wang JM, Huang QH, Zhao CF, Liu YP, Li XY, Wu TF, Song JQ, Wang YJ, Yang YL.(2014) ATP7A_000120 - Y Yang
./. 1 4 c.1118_1119insA r.? p.? VariO:0142 DNA insertion - g.77245306_77245307insA Ogawa A1, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y.(1999) ATP7A_000056 - Y Yang
./. 1 4 c.1125C>T r.(?) p.(Arg40*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77245343C>T Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000043 - Y Yang
./. 1 4 c.1164delT r.? p.? VariO:0141 DNA deletion - g.77245282delT Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000037 - Y Yang
./. 1 2i c.120+41G>A r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.77227259G>A Watanabe A1, Shimizu N.(2005) ATP7A_000013 - Y Yang
./. 1 2i_12i c.121-930_2626+488del r.? p.? VariO:0141 DNA deletion - g.77242808_77271866del Kim JH1, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.(2015) ATP7A_000122 - Y Yang
./. 1 4 c.1235delA r.? p.? VariO:0141 DNA deletion - g.77245353delA Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000038 - Y Yang
./. 1 4 c.1294delA r.? p.? VariO:0141 DNA deletion - g.77245412delA Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000039 - Y Yang
./. 1 5 c.1344_1345insTGCCA r.? p.? VariO:0142 DNA insertion - g.77253982_77253983insTGCCA Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000040 - Y Yang
./. 1 5 c.1355_1356delTA r.(?) p.(Val452Glyfs*16) - - g.77254034_77254035delTA de Gemmis P et al. (2017) ATP7A_000138 - XY Liu
./. 1 5 c.1381_1390delGGTTTGGTTT r.? p.? VariO:0141 DNA deletion - g.77254019_77254028delGGTTTGGTTT Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000041 - Y Yang
./. 1 5 c.1440_1441delGT r.? p.? VariO:0141 DNA deletion - g.77254038_77254039delGT Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000042 - Y Yang
./. 1 5 c.1460C>A r.? p.(Ser487*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77254098C>A Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000069 - Y Yang
./. 1 5 c.1519G>T r.(?) p.(Glu507*) - - g.77254198G>T de Gemmis P et al. (2017) ATP7A_000133 - XY Liu
./. 1 6 c.1585G>T r.? p.(Glu529*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77258611G>T Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000070 - Y Yang
./. 1 6i c.1707+1G>A r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.77258734G>A M?ller LB1, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N.(2000) ATP7A_000002 ADMIN Y Yang
./. 1 6i c.1707+4A>G r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.77258737A>G 1 more item ATP7A_000014 - Y Yang
./. 1 6i c.1707+4_1707+5insGTAA r.? p.? VariO:0142 DNA insertion - g.77258737_77258738insGTAA Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000012 - Y Yang
./. 1 7 c.1734C>A r.(?) p.(Cys578*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77264625C>A Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000044 - Y Yang
./. 1 7 c.1747G>T r.(?) p.(Glu583*) - - g.77264679G>T de Gemmis P et al. (2017) ATP7A_000134 - XY Liu
./. 1 3 c.177_178insAAAG r.? p.? VariO:0142 DNA insertion - g.77243794_77243795insAAAG Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000024 - Y Yang
./. 1 7i c.1870-1G>C r.? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.77266672G>C Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000003 - Y Yang
./. 1 8 c.1885G>C r.(?) p.(Ala629Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77266688G>C Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000053 - Y Yang
./. 1 8 c.1893_1894delAG r.? p.? VariO:0141 DNA deletion - g.77266696_77266697delAG Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000062 - Y Yang
./. 1 8 c.1910C>A r.(?) p.(Ser637*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77266713C>A Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000045 - Y Yang
./. 2 8 c.1933C>T r.(?) p.(Arg645*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77266736C>T Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997), 1 more item ATP7A_000046 - Y Yang
./. 1 8 c.1936G>T r.? p.(Arg646*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77266739G>T Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) ATP7A_000058 - Y Yang
./. 1 8i c.1946+1G>C r.? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.77266750G>C Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000004 ADMIN Y Yang
./. 1 8i c.1946+2delT r.? p.? VariO:0141 DNA deletion - g.77266751delT Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000007 - Y Yang
./. 1 8i c.1946+4A>G r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.77266753A>G 1 more item ATP7A_000015 - Y Yang
./. 1 8i c.1946+5G>A r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.77266754G>A Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000008 - Y Yang
./. 2 8i c.1946+5G>C r.? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.77266754G>C Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997), 1 more item ATP7A_000005 ADMIN Y Yang
./. 1 8i c.1946+6T>G r.? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.77266755T>G Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000006 ADMIN Y Yang
./. 1 9 c.1949G>A r.(?) p.(Trp650*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation g.77266948G>A 1 more item ATP7A_000104 ADMIN Y Yang
./. 1 9 c.2030_2031insA r.? p.? VariO:0142 DNA insertion - g.77267029_77267030insA Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000063 - Y Yang
./. 1 9 c.2056_2059del r.? p.? VariO:0141 DNA deletion - g.77267055_77267058del Kim JH1, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.(2015) ATP7A_000128 - Y Yang
./. 1 9 c.2059A>G r.(?) p.(Met687Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77267058A>G 1 more item ATP7A_000110 - Y Yang
./. 1 9 c.2068G>T r.(?) p.(Glu690*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77267067G>T Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000047 - Y Yang
./. 1 9 c.2117T>G r.(?) p.(Leu706Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77267116T>G Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) ATP7A_000059 - Y Yang
./. 1 9 c.2153T>A r.? p.(Leu718*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77267152T>A Ogawa A1, Yamamoto S, Kanazawa M, Ogawa E, Takayanagi M, Hasegawa S, Kohno Y.(2000) ATP7A_000057 - Y Yang
./. 1 9 c.2159delG r.? p.? VariO:0141 DNA deletion - g.77267158delG 1 more item ATP7A_000107 - Y Yang
./. 3 9i c.2172+5G>C r.(=), r.? p.(=), p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.77267217G>C, g.77267176G>C de Gemmis P et al. (2017), Ogawa A1, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y.(1999), 1 more item ATP7A_000011 - XY Liu, Y Yang
./. 1 9 c.2172G>T r.(?) p.(Gln724His) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77267171G>T 1 more item ATP7A_000118 - Y Yang
./. 1 10 c.2179G>A r.(?) p.(Gly727Arg) - - g.77268423G>C Cao B et al. (2017) ATP7A_000131 - XY Liu
./. 2 10 c.2179G>C r.(?) p.(Gly727Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77268382G>C Lee JS1, Lim BC1, Kim KJ1, Hwang YS1, Cheon JE2, Kim IO2, Seong MW3, Park SS3, Chae JH4.(2015), 1 more item ATP7A_000054 - Y Yang
./. 1 10 c.2313dupG r.(?) p.(Arg772Glufs*11) - - g.77268557dupG de Gemmis P et al. (2017) ATP7A_000141 - XY Liu
./. 1 10 c.2383C>T r.(?) p.(Arg795*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77268586C>T Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000048 - Y Yang
./. 1 10i c.2406+3A>T r.? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.77268612A>T Kaler SG1, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA.(1994) ATP7A_000001 - Y Yang
./. 1 10i c.2407-2A>G r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.77270157A>G 1 more item ATP7A_000016 - Y Yang
./. 1 11 c.2446C>T r.(?) p.(Gln816*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77270198C>T Lee JS1, Lim BC1, Kim KJ1, Hwang YS1, Cheon JE2, Kim IO2, Seong MW3, Park SS3, Chae JH4.(2015) ATP7A_000121 - Y Yang
./. 1 11 c.2459_2462delAGAG r.? p.? VariO:0141 DNA deletion - g.77270211_77270214delAGAG Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000064 - Y Yang
./. 1 13 c.2473_2474del r.? p.? VariO:0141 DNA deletion - g.77270225_77270226del Kim JH1, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.(2015) ATP7A_000126 - Y Yang
./. 1 12 c.2531G>A r.(?) p.(Arg844His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77271283G>A M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000076 - Y Yang
./. 1 12 c.2557G>C r.(?) p.(Gly853Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77271309G>C M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000077 - Y Yang
./. 1 12 c.2579G>T r.(?) p.(Gly860Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77271309G>C M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000077 - Y Yang
./. 1 12 c.2609A>G r.(?) p.(Asp870Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77271361A>G 1 more item ATP7A_000111 - Y Yang
./. 1 12 c.2618T>G r.(?) p.(Leu873Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77271370T>G M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000078 - Y Yang
./. 1 13 c.2626G>C r.(?) p.(Gly876Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77275740G>C M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000079 - Y Yang
./. 1 12i c.2627-2A>G r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.77275739A>G Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000009 ADMIN Y Yang
./. 1 13 c.2627G>A r.(?) p.(Gly876Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77275741G>A M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000080 - Y Yang
./. 2 13 c.2686C>T r.(?) p.(Gln896*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77275841C>T, g.77275800C>T Gupta D et al. (2016), Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000049 - XY Liu, Y Yang
./. 2 13 c.2743C>T r.(?) p.(Gln915*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77275857C>T Kim YH1, Lee R, Yoo HW, Yum MS, Bae SH, Chung SC, Park YM, Son JS.(2011), 1 more item ATP7A_000117 - Y Yang
./. 1 13 c.2770C>T r.(?) p.(Gln924*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77275884C>T Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000050 - Y Yang
./. 1 13 c.2771A>G r.(?) p.(Gln924Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77275885A>G M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000081 - Y Yang
./. 1 14 c.2867G>A r.(?) p.(Trp956*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation g.77276527G>A Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000051 - Y Yang
./. 3 15 c.2938C>T r.(?) p.(Arg980*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77284809C>T, g.77284768C>T de Gemmis P et al. (2017), 2 more items ATP7A_000021 - XY Liu, Y Yang
./. 1 15 c.2944G>T r.(?) p.(Glu982*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77284774G>T 1 more item ATP7A_000105 - Y Yang
./. 2 15 c.2956C>T r.(?) p.(Arg986*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.77284827C>T, g.77284786C>T de Gemmis P et al. (2017), 1 more item ATP7A_000071 - XY Liu, Y Yang
./. 1 15 c.2998T>C r.(?) p.(Cys1000Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.77284828T>C M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000082 - Y Yang
./. 1 15 c.3013G>C r.(?) p.(Gly1005Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77284843G>C 1 more item ATP7A_000112 - Y Yang
./. 2 15 c.3017T>C r.(?) p.(Leu1006Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.77284847T>C M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005), 1 more item ATP7A_000055 - Y Yang
./. 1 15 c.3019G>A r.(?) p.(Ala1007Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77284849G>A M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000084 - Y Yang
./. 1 15 c.3020C>T r.(?) p.(Ala1007Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.77284850C>T M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000083 - Y Yang
./. 1 15 c.3040_3041insG r.? p.? VariO:0142 DNA insertion - g.77284870_77284871insG 1 more item ATP7A_000108 - Y Yang
./. 1 15 c.3043G>A r.(?) p.(Gly1015Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77284873G>A 1 more item ATP7A_000113 - Y Yang
./. 1 15 c.3044G>A r.(?) p.(Gly1015Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77284874G>A M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000085 - Y Yang
./. 1 15 c.3045delT r.? p.? VariO:0141 DNA deletion - g.77284875delT Zhang LP1, Lü JL, Wang XH, Zou LP.(2008) ATP7A_000074 - Y Yang
./. 2 15 c.3056G>A r.(?) p.(Gly1019Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77284886G>A Kim BE1, Smith K, Meagher CK, Petris MJ.(2002), 1 more item ATP7A_000022 - Y Yang
./. 1 15 c.3067_3096del r.(?) p.(Gly1023_Leu1032del) - - g.77284938_77284967del de Gemmis P et al. (2017) ATP7A_000136 - XY Liu
./. 1 16 c.3131A>G r.(?) p.(Asp1044Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77286917A>G Watanabe A1, Shimizu N.(2005) ATP7A_000101 - Y Yang
./. 1 16 c.3134A>C r.(?) p.(Lys1045Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77286920A>C M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000086 - Y Yang
./. 2 16 c.3143C>T r.(?) p.(Thr1048Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.77286929C>T 2 more items ATP7A_000114 - Y Yang
./. 1 12 c.3219_3220insAT r.? p.? VariO:0142 DNA insertion - g.77287005_77287006insAT Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000065 - Y Yang
./. 1 16 c.3241G>T r.(?) p.(Glu1081*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77287027G>T Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997) ATP7A_000052 - Y Yang
./. 1 16 c.3257del r.? p.? VariO:0141 DNA deletion - g.77287043del Kim JH1, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.(2015) ATP7A_000129 - Y Yang
./. 1 16 c.3265G>T r.(?) p.(Gly1089*) - - g.77287091G>T Wang Q et al. (2014) ATP7A_000130 - XY Liu
./. 1 16 c.3293A>C r.(?) p.(Gln1098Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77287079A>C 1 more item ATP7A_000115 - Y Yang
./. 1 16i c.3294+2T>C r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.77287082T>C 1 more item ATP7A_000017 - Y Yang
./. 1 17 c.3299T>C r.(?) p.(Leu1100Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.77289107T>C M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005) ATP7A_000087 - Y Yang
./. 1 17 c.3352G>A r.(?) p.(Gly1118Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77289160G>A Kim JH1, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.(2015) ATP7A_000124 - Y Yang
./. 1 17 c.3454_3455insAG r.? p.? VariO:0142 DNA insertion - g.77289262_77289263insAG Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001) ATP7A_000020 - Y Yang
./. 1 17i c.3511+1G>A r.? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.77289320G>A Kim JH1, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.(2015) ATP7A_000127 - Y Yang
./. 1 18 c.3539T>A r.(?) p.(Val1180Asp) - - g.77294401T>A de Gemmis P et al. (2017) ATP7A_000143 - XY Liu
./. 1 17 c.3553G>A r.(?) p.(Gly1118Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.77289161G>A Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) ATP7A_000060 - Y Yang
./. 1 18 c.3561G>A r.(?) p.(Trp1187*) - - g.77294423G>A de Gemmis P et al. (2017) ATP7A_000135 - XY Liu
./. 1 19 c.3693_3694delAG r.? p.? VariO:0141 DNA deletion - g.77296123delAG 1 more item ATP7A_000109 - Y Yang
./. 1 19_21i c.3744_4123+576del r.? p.? VariO:0141 DNA deletion - g.77296174_77299508del Kim JH1, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.(2015) ATP7A_000123 - Y Yang
./. 1 19 c.3763G>C r.(?) p.(Gly1255Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.77296193G>C Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001) ATP7A_000061 - Y Yang
./. 1 19 c.3775A>T r.(?) p.(Lys1259*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.77296205A>T 1 more item ATP7A_000106 ADMIN Y Yang
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