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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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