APP c.890C>T ;(p.T297M)

Variant ID: 21-27372473-G-A

NM_000484.3(APP):c.890C>T;(p.T297M)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: APP: T297M; rs557227002
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.

Cns Neuroscience & Therapeutics
Xiao, Xuewen X; Liu, Hui H; Zhou, Lu L; Liu, Xixi X; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Hao, Xiaoli X; Liu, Yingzi Y; Zhang, Weiwei W; Zhou, Yafang Y; Wang, Junling J; Li, Jinchen J; Jiao, Bin B; Shen, Lu L; Liao, Xinxin X
Publication Date: 2022-10-10

Variant appearance in text: APP: T297M
PubMed Link: 36217304
Variant Present in the following documents:
  • Main text
  • CNS-29-122.pdf
View BVdb publication page



Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.

Genes
von Wrede, Randi R; Schidlowski, Martin M; Huppertz, Hans-Jürgen HJ; Rüber, Theodor T; Ivo, Anja A; Baumgartner, Tobias T; Hallmann, Kerstin K; Zsurka, Gábor G; Helmstaedter, Christoph C; Surges, Rainer R; Kunz, Wolfram S WS
Publication Date: 2022-02-25

Variant appearance in text: APP: Thr297Met
PubMed Link: 35327983
Variant Present in the following documents:
  • genes-13-00429.pdf
View BVdb publication page



DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.

Frontiers In Genetics
Rogozin, Igor B IB; Roche-Lima, Abiel A; Tyryshkin, Kathrin K; Carrasquillo-Carrión, Kelvin K; Lada, Artem G AG; Poliakov, Lennard Y LY; Schwartz, Elena E; Saura, Andreu A; Yurchenko, Vyacheslav V; Cooper, David N DN; Panchenko, Anna R AR; Pavlov, Youri I YI
Publication Date: 2021

Variant appearance in text: APP: T297M
PubMed Link: 34093666
Variant Present in the following documents:
  • Data_Sheet_3.xls, sheet 1
View BVdb publication page



The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30

Variant appearance in text: APP: T297M
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.pdf
View BVdb publication page



APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-09-25

Variant appearance in text: APP: 890C>T; Thr297Met
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.pdf
View BVdb publication page



Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports
Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA
Publication Date: 2017-08-29

Variant appearance in text: APP: T297M
PubMed Link: 28852190
Variant Present in the following documents:
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: APP: 890C>T; T297M
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: APP: 890C>T; T297M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page