APP c.1075C>T ;(p.R359*)

Variant ID: 21-27369690-G-A

NM_000484.3(APP):c.1075C>T;(p.R359*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: APP: 1033+2640C>T; R359*
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
View BVdb publication page



Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Frontiers In Neurology
Vieira, Sophia R L SRL; Morris, Huw R HR
Publication Date: 2021

Variant appearance in text: APP: R359X
PubMed Link: 34149605
Variant Present in the following documents:
  • Main text
  • fneur-12-679927.pdf
View BVdb publication page



Truncating mutations in APP cause a distinct neurological phenotype.

Annals Of Neurology
Klein, Steven S; Goldman, Alexander A; Lee, Hane H; Ghahremani, Shahnaz S; Bhakta, Viraj V; , ; Nelson, Stanley F SF; Martinez-Agosto, Julian A JA
Publication Date: 2016-09

Variant appearance in text: APP: 1075C>T; Arg359*
PubMed Link: 27422356
Variant Present in the following documents:
  • Main text
View BVdb publication page