APP c.57+28142A>G

Variant ID: 21-27514740-T-C

NM_000484.3(APP):c.57+28142A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2830088
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Implication of the APP Gene in Intellectual Abilities.

Journal Of Alzheimer'S Disease : Jad
Myrum, Craig C; Nikolaienko, Oleksii O; Bramham, Clive R CR; Haavik, Jan J; Zayats, Tetyana T
Publication Date: 2017

Variant appearance in text: rs2830088
PubMed Link: 28671113
Variant Present in the following documents:
  • Main text
  • jad-59-jad170049.pdf
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Candidate gene analysis for Alzheimer's disease in adults with Down syndrome.

Neurobiology Of Aging
Lee, Joseph H JH; Lee, Annie J AJ; Dang, Lam-Ha LH; Pang, Deborah D; Kisselev, Sergey S; Krinsky-McHale, Sharon J SJ; Zigman, Warren B WB; Luchsinger, José A JA; Silverman, Wayne W; Tycko, Benjamin B; Clark, Lorraine N LN; Schupf, Nicole N
Publication Date: 2017-08

Variant appearance in text: rs2830088
PubMed Link: 28554490
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.

Journal Of Alzheimer'S Disease : Jad
Gerrish, Amy A; Russo, Giancarlo G; Richards, Alexander A; Moskvina, Valentina V; Ivanov, Dobril D; Harold, Denise D; Sims, Rebecca R; Abraham, Richard R; Hollingworth, Paul P; Chapman, Jade J; Hamshere, Marian M; Pahwa, Jaspreet Singh JS; Dowzell, Kimberley K; Williams, Amy A; Jones, Nicola N; Thomas, Charlene C; Stretton, Alexandra A; Morgan, Angharad R AR; Lovestone, Simon S; Powell, John J; Proitsi, Petroula P; Lupton, Michelle K MK; Brayne, Carol C; Rubinsztein, David C DC; Gill, Michael M; Lawlor, Brian B; Lynch, Aoibhinn A; Morgan, Kevin K; Brown, Kristelle S KS; Passmore, Peter A PA; Craig, David D; McGuinness, Bernadette B; Todd, Stephen S; Johnston, Janet A JA; Holmes, Clive C; Mann, David D; Smith, A David AD; Love, Seth S; Kehoe, Patrick G PG; Hardy, John J; Mead, Simon S; Fox, Nick N; Rossor, Martin M; Collinge, John J; Maier, Wolfgang W; Jessen, Frank F; Kölsch, Heike H; Heun, Reinhard R; Schürmann, Britta B; van den Bussche, Hendrik H; Heuser, Isabella I; Kornhuber, Johannes J; Wiltfang, Jens J; Dichgans, Martin M; Frölich, Lutz L; Hampel, Harald H; Hüll, Michael M; Rujescu, Dan D; Goate, Alison M AM; Kauwe, John S K JS; Cruchaga, Carlos C; Nowotny, Petra P; Morris, John C JC; Mayo, Kevin K; Livingston, Gill G; Bass, Nicholas J NJ; Gurling, Hugh H; McQuillin, Andrew A; Gwilliam, Rhian R; Deloukas, Panagiotis P; Davies, Gail G; Harris, Sarah E SE; Starr, John M JM; Deary, Ian J IJ; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Tsolaki, Magda M; Singleton, Andrew B AB; Guerreiro, Rita R; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Moebus, Susanne S; Jöckel, Karl-Heinz KH; Klopp, Norman N; Wichmann, H-Erich HE; Carrasquillo, Minerva M MM; Pankratz, V Shane VS; Younkin, Steven G SG; Jones, Lesley L; Holmans, Peter A PA; O'Donovan, Michael C MC; Owen, Michael J MJ; Williams, Julie J
Publication Date: 2012

Variant appearance in text: rs2830088
PubMed Link: 22027014
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis.

Journal Of Alzheimer'S Disease : Jad
Peuralinna, Terhi T; Tanskanen, Maarit M; Mäkelä, Mira M; Polvikoski, Tuomo T; Paetau, Anders A; Kalimo, Hannu H; Sulkava, Raimo R; Hardy, John J; Lai, Shiao-Lin SL; Arepalli, Sampath S; Hernandez, Dena D; Traynor, Bryan J BJ; Singleton, Andrew A; Tienari, Pentti J PJ; Myllykangas, Liisa L
Publication Date: 2011

Variant appearance in text: rs2830088
PubMed Link: 21654062
Variant Present in the following documents:
  • Main text
View BVdb publication page