APP c.1496G>A ;(p.R499H)

Variant ID: 21-27328032-C-T

NM_000484.3(APP):c.1496G>A;(p.R499H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: APP: R499H
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy
Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,
Publication Date: 2020-09-11

Variant appearance in text: APP: R499H
PubMed Link: 32917274
Variant Present in the following documents:
  • Main text
  • 13195_2020_Article_676.pdf
View BVdb publication page



Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Acta Neuropathologica Communications
Orme, Tatiana T; Hernandez, Dena D; Ross, Owen A OA; Kun-Rodrigues, Celia C; Darwent, Lee L; Shepherd, Claire E CE; Parkkinen, Laura L; Ansorge, Olaf O; Clark, Lorraine L; Honig, Lawrence S LS; Marder, Karen K; Lemstra, Afina A; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Londos, Elisabet E; Zetterberg, Henrik H; Morgan, Kevin K; Troakes, Claire C; Al-Sarraj, Safa S; Lashley, Tammaryn T; Holton, Janice J; Compta, Yaroslau Y; Van Deerlin, Vivianna V; Trojanowski, John Q JQ; Serrano, Geidy E GE; Beach, Thomas G TG; Lesage, Suzanne S; Galasko, Douglas D; Masliah, Eliezer E; Santana, Isabel I; Pastor, Pau P; Tienari, Pentti J PJ; Myllykangas, Liisa L; Oinas, Minna M; Revesz, Tamas T; Lees, Andrew A; Boeve, Brad F BF; Petersen, Ronald C RC; Ferman, Tanis J TJ; Escott-Price, Valentina V; Graff-Radford, Neill N; Cairns, Nigel J NJ; Morris, John C JC; Pickering-Brown, Stuart S; Mann, David D; Halliday, Glenda G; Stone, David J DJ; Dickson, Dennis W DW; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R; Bras, Jose J
Publication Date: 2020-01-29

Variant appearance in text: APP: Arg499His
PubMed Link: 31996268
Variant Present in the following documents:
  • Main text
View BVdb publication page