ABCA7 c.2629G>A ;(p.A877T)

Variant ID: 19-1050996-G-A

NM_019112.3(ABCA7):c.2629G>A;(p.A877T)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Frontiers In Aging Neuroscience
Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S
Publication Date: 2022

Variant appearance in text: ABCA7: 2629G>A; Ala877Thr
PubMed Link: 36133075
Variant Present in the following documents:
  • Main text
  • fnagi-14-969817.pdf
View BVdb publication page



Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.

Plos One
Tejada Moreno, Johanna Alexandra JA; Villegas Lanau, Andrés A; Madrigal Zapata, Lucia L; Baena Pineda, Ana Yulied AY; Velez Hernandez, Juan J; Campo Nieto, Omer O; Soto Ospina, Alejandro A; Araque Marín, Pedronel P; Rishishwar, Lavanya L; Norris, Emily T ET; Chande, Aroon T AT; Jordan, I King IK; Bedoya Berrio, Gabriel G
Publication Date: 2022

Variant appearance in text: ABCA7: A877T
PubMed Link: 35905044
Variant Present in the following documents:
  • Main text
  • pone.0269955.pdf
  • pone.0269955.s020.pdf
  • pone.0269955.s017.pdf
View BVdb publication page



Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28

Variant appearance in text: ABCA7: 2629G>A; A877T; rs74176364
PubMed Link: 32345996
Variant Present in the following documents:
  • 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: ABCA7: A877T; rs74176364
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: ABCA7: A877T; rs74176364
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Neurobiology Of Aging
Sassi, Celeste C; Nalls, Michael A MA; Ridge, Perry G PG; Gibbs, Jesse R JR; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Clement, Naomi N; Lord, Jenny J; Turton, James J; Bras, Jose J; Almeida, Maria R MR; , ; Holstege, Henne H; Louwersheimer, Eva E; van der Flier, Wiesje M WM; Scheltens, Philip P; Van Swieten, John C JC; Santana, Isabel I; Oliveira, Catarina C; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J
Publication Date: 2016-10

Variant appearance in text: rs74176364
PubMed Link: 27289440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ABCA7: A877T; rs74176364
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.

American Journal Of Human Genetics
He, Zongxiao Z; O'Roak, Brian J BJ; Smith, Joshua D JD; Wang, Gao G; Hooker, Stanley S; Santos-Cortez, Regie Lyn P RL; Li, Biao B; Kan, Mengyuan M; Krumm, Nik N; Nickerson, Deborah A DA; Shendure, Jay J; Eichler, Evan E EE; Leal, Suzanne M SM
Publication Date: 2014-01-02

Variant appearance in text: ABCA7: 2629G>A; Ala877Thr; rs74176364
PubMed Link: 24360806
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: ABCA7: A877T; rs74176364
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page