APP c.1032C>A ;(p.A344=)

Variant ID: 21-27372331-G-T

NM_000484.3(APP):c.1032C>A;(p.A344=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.

Frontiers In Allergy
Drouet, Christian C; López-Lera, Alberto A; Ghannam, Arije A; López-Trascasa, Margarita M; Cichon, Sven S; Ponard, Denise D; Parsopoulou, Faidra F; Grombirikova, Hana H; Freiberger, Tomáš T; Rijavec, Matija M; Veronez, Camila L CL; Pesquero, João Bosco JB; Germenis, Anastasios E AE
Publication Date: 2022

Variant appearance in text: APP: 1032C>A
PubMed Link: 35958943
Variant Present in the following documents:
  • Main text
  • falgy-03-835503.pdf
View BVdb publication page



The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Charest-Morin, Xavier X; Betschel, Stephen S; Borici-Mazi, Rozita R; Kanani, Amin A; Lacuesta, Gina G; Rivard, Georges-Étienne GÉ; Wagner, Eric E; Wasserman, Susan S; Yang, Bill B; Drouet, Christian C
Publication Date: 2018

Variant appearance in text: APP: 1032C>A
PubMed Link: 30479631
Variant Present in the following documents:
  • Main text
  • 13223_2018_Article_307.pdf
View BVdb publication page



Examination of genetic variants involved in generation and biodisposition of kinins in patients with angioedema.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Levy, Jonathan J; Rivard, Georges-Etienne GE; Wagner, Eric E; Beezhold, Don D; Berlin, Noam N; Fan, Li L; Zhang, Zhao Z; Sussman, Gordon L GL
Publication Date: 2014

Variant appearance in text: APP: 1032C>A
PubMed Link: 25670937
Variant Present in the following documents:
  • Main text
  • 13223_2014_Article_60.pdf
View BVdb publication page