GRN c.264+2T>C

Variant ID: 17-42426921-T-C

NM_002087.2(GRN):c.264+2T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.

Jama Network Open
Staffaroni, Adam M AM; Goh, Sheng-Yang M SM; Cobigo, Yann Y; Ong, Elise E; Lee, Suzee E SE; Casaletto, Kaitlin B KB; Wolf, Amy A; Forsberg, Leah K LK; Ghoshal, Nupur N; Graff-Radford, Neill R NR; Grossman, Murray M; Heuer, Hilary W HW; Hsiung, Ging-Yuek R GR; Kantarci, Kejal K; Knopman, David S DS; Kremers, Walter K WK; Mackenzie, Ian R IR; Miller, Bruce L BL; Pedraza, Otto O; Rascovsky, Katya K; Tartaglia, M Carmela MC; Wszolek, Zbigniew K ZK; Kramer, Joel H JH; Kornak, John J; Boeve, Bradley F BF; Boxer, Adam L AL; Rosen, Howard J HJ; ,
Publication Date: 2020-10-01

Variant appearance in text: GRN: 264+2T>C
PubMed Link: 33112398
Variant Present in the following documents:
  • jamanetwopen-e2022847-s001.pdf
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Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Deverasetty, Sandeep S; Qin, Yue Y; van Blitterswijk, Marka M; Jackson, Jazmyne J; Appleby, Brian B; Bordelon, Yvette Y; Brannelly, Patrick P; Brushaber, Danielle E DE; Dickerson, Bradford B; Dickinson, Susan S; Domoto-Reilly, Kimiko K; Faber, Kelley K; Fields, Julie J; Fong, Jamie J; Foroud, Tatiana T; Forsberg, Leah K LK; Gavrilova, Ralitza R; Ghoshal, Nupur N; Goldman, Jill J; Graff-Radford, Jonathan J; Graff-Radford, Neill N; Grant, Ian I; Grossman, Murray M; Heuer, Hilary W HW; Hsiung, Ging-Yuek R GR; Huey, Edward E; Irwin, David D; Kantarci, Kejal K; Karydas, Anna A; Kaufer, Daniel D; Kerwin, Diana D; Knopman, David D; Kornak, John J; Kramer, Joel H JH; Kremers, Walter W; Kukull, Walter W; Litvan, Irene I; Ljubenkov, Peter P; Lungu, Codrin C; Mackenzie, Ian I; Mendez, Mario F MF; Miller, Bruce L BL; Onyike, Chiadi C; Pantelyat, Alexander A; Pearlman, Rodney R; Petrucelli, Len L; Potter, Madeline M; Rankin, Katherine P KP; Rascovsky, Katya K; Roberson, Erik D ED; Rogalski, Emily E; Shaw, Leslie L; Syrjanen, Jeremy J; Tartaglia, Maria Carmela MC; Tatton, Nadine N; Taylor, Joanne J; Toga, Arthur A; Trojanowski, John Q JQ; Weintraub, Sandra S; Wong, Bonnie B; Wszolek, Zbigniew Z; Rademakers, Rosa R; Boeve, Brad F BF; Rosen, Howard J HJ; Boxer, Adam L AL; , ; Coppola, Giovanni G
Publication Date: 2020-01

Variant appearance in text: GRN: 264+2T>C
PubMed Link: 31914217
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

The Lancet. Neurology
Moore, Katrina M KM; Nicholas, Jennifer J; Grossman, Murray M; McMillan, Corey T CT; Irwin, David J DJ; Massimo, Lauren L; Van Deerlin, Vivianna M VM; Warren, Jason D JD; Fox, Nick C NC; Rossor, Martin N MN; Mead, Simon S; Bocchetta, Martina M; Boeve, Bradley F BF; Knopman, David S DS; Graff-Radford, Neill R NR; Forsberg, Leah K LK; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; van Swieten, John C JC; Jiskoot, Lize C LC; Meeter, Lieke H LH; Dopper, Elise Gp EG; Papma, Janne M JM; Snowden, Julie S JS; Saxon, Jennifer J; Jones, Matthew M; Pickering-Brown, Stuart S; Le Ber, Isabelle I; Camuzat, Agnès A; Brice, Alexis A; Caroppo, Paola P; Ghidoni, Roberta R; Pievani, Michela M; Benussi, Luisa L; Binetti, Giuliano G; Dickerson, Bradford C BC; Lucente, Diane D; Krivensky, Samantha S; Graff, Caroline C; Öijerstedt, Linn L; Fallström, Marie M; Thonberg, Håkan H; Ghoshal, Nupur N; Morris, John C JC; Borroni, Barbara B; Benussi, Alberto A; Padovani, Alessandro A; Galimberti, Daniela D; Scarpini, Elio E; Fumagalli, Giorgio G GG; Mackenzie, Ian R IR; Hsiung, Ging-Yuek R GR; Sengdy, Pheth P; Boxer, Adam L AL; Rosen, Howie H; Taylor, Joanne B JB; Synofzik, Matthis M; Wilke, Carlo C; Sulzer, Patricia P; Hodges, John R JR; Halliday, Glenda G; Kwok, John J; Sanchez-Valle, Raquel R; Lladó, Albert A; Borrego-Ecija, Sergi S; Santana, Isabel I; Almeida, Maria Rosário MR; Tábuas-Pereira, Miguel M; Moreno, Fermin F; Barandiaran, Myriam M; Indakoetxea, Begoña B; Levin, Johannes J; Danek, Adrian A; Rowe, James B JB; Cope, Thomas E TE; Otto, Markus M; Anderl-Straub, Sarah S; de Mendonça, Alexandre A; Maruta, Carolina C; Masellis, Mario M; Black, Sandra E SE; Couratier, Philippe P; Lautrette, Geraldine G; Huey, Edward D ED; Sorbi, Sandro S; Nacmias, Benedetta B; Laforce, Robert R; Tremblay, Marie-Pier L ML; Vandenberghe, Rik R; Damme, Philip Van PV; Rogalski, Emily J EJ; Weintraub, Sandra S; Gerhard, Alexander A; Onyike, Chiadi U CU; Ducharme, Simon S; Papageorgiou, Sokratis G SG; Ng, Adeline Su Lyn ASL; Brodtmann, Amy A; Finger, Elizabeth E; Guerreiro, Rita R; Bras, Jose J; Rohrer, Jonathan D JD; ,
Publication Date: 2020-02

Variant appearance in text: GRN: 264+2T>C
PubMed Link: 31810826
Variant Present in the following documents:
  • NIHMS1067362-supplement-Supplement.pdf
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Genetic screen in a large series of patients with primary progressive aphasia.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Miller, Zachary A ZA; Karydas, Anna M AM; Bigio, Eileen H EH; Rogalski, Emily E; Weintraub, Sandra S; Rader, Benjamin B; Miller, Bruce L BL; Gorno-Tempini, Maria Luisa ML; Mesulam, Marek-Marsel MM; Coppola, Giovanni G
Publication Date: 2019-04

Variant appearance in text: GRN: 264+2T>C
PubMed Link: 30599136
Variant Present in the following documents:
  • Main text
View BVdb publication page



RED-ML: a novel, effective RNA editing detection method based on machine learning.

Gigascience
Xiong, Heng H; Liu, Dongbing D; Li, Qiye Q; Lei, Mengyue M; Xu, Liqin L; Wu, Liang L; Wang, Zongji Z; Ren, Shancheng S; Li, Wangsheng W; Xia, Min M; Lu, Lihua L; Lu, Haorong H; Hou, Yong Y; Zhu, Shida S; Liu, Xin X; Sun, Yinghao Y; Wang, Jian J; Yang, Huanming H; Wu, Kui K; Xu, Xun X; Lee, Leo J LJ
Publication Date: 2017-05-01

Variant appearance in text: GRN: 264+2T>C
PubMed Link: 28328004
Variant Present in the following documents:
  • gix012_TableS11.xlsx, sheet 4
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The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Archives Of Neurology
Yu, Chang-En CE; Bird, Thomas D TD; Bekris, Lynn M LM; Montine, Thomas J TJ; Leverenz, James B JB; Steinbart, Ellen E; Galloway, Nichole M NM; Feldman, Howard H; Woltjer, Randall R; Miller, Carol A CA; Wood, Elisabeth McCarty EM; Grossman, Murray M; McCluskey, Leo L; Clark, Christopher M CM; Neumann, Manuela M; Danek, Adrian A; Galasko, Douglas R DR; Arnold, Steven E SE; Chen-Plotkin, Alice A; Karydas, Anna A; Miller, Bruce L BL; Trojanowski, John Q JQ; Lee, Virginia M-Y VM; Schellenberg, Gerard D GD; Van Deerlin, Vivianna M VM
Publication Date: 2010-02

Variant appearance in text: GRN: 264+2T>C
PubMed Link: 20142524
Variant Present in the following documents:
  • Main text
View BVdb publication page