AKAP9 c.11707G>A ;(p.A3903T)

Variant ID: 7-91739456-G-A

NM_005751.4(AKAP9):c.11707G>A;(p.A3903T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: AKAP9: 11707G>A; Ala3903Thr
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human Molecular Genetics
Qin, Wei W; Zhou, Aihong A; Zuo, Xiumei X; Jia, Longfei L; Li, Fangyu F; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Jin, Hongmei H; Cruchaga, Carlos C; Benitez, Bruno A BA; Jia, Jianping J
Publication Date: 2021-05-28

Variant appearance in text: AKAP9: 11707G>A; A3903T; rs201298286
PubMed Link: 33835157
Variant Present in the following documents:
  • supplementary_tables_ddab090.xlsx, sheet 1
View BVdb publication page



Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Plos One
Forleo, Cinzia C; D'Erchia, Anna Maria AM; Sorrentino, Sandro S; Manzari, Caterina C; Chiara, Matteo M; Iacoviello, Massimo M; Guaricci, Andrea Igoren AI; De Santis, Delia D; Musci, Rita Leonarda RL; La Spada, Antonino A; Marangelli, Vito V; Pesole, Graziano G; Favale, Stefano S
Publication Date: 2017

Variant appearance in text: rs201298286
PubMed Link: 28750076
Variant Present in the following documents:
View BVdb publication page