AKAP9 c.8747C>A ;(p.T2916K)

Variant ID: 7-91714169-C-A

NM_005751.4(AKAP9):c.8747C>A;(p.T2916K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Human Genomics
Bajaj, Anjali A; Senthivel, Vigneshwar V; Bhoyar, Rahul R; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Divakar, Mohit Kumar MK; Jolly, Bani B; Verma, Ankit A; Mishra, Anushree A; Sharma, Disha D; Deepti, Siddharthan S; Sharma, Gautam G; Bansal, Raghav R; Yadav, Rakesh R; Scaria, Vinod V; Naik, Nitish N; Sivasubbu, Sridhar S
Publication Date: 2022-08-05

Variant appearance in text: AKAP9: 8747C>A; T2916K; rs146648044
PubMed Link: 35932045
Variant Present in the following documents:
  • 40246_2022_402_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Plos One
Sahlin, Ellika E; Gréen, Anna A; Gustavsson, Peter P; Liedén, Agne A; Nordenskjöld, Magnus M; Papadogiannakis, Nikos N; Pettersson, Karin K; Nilsson, Daniel D; Jonasson, Jon J; Iwarsson, Erik E
Publication Date: 2019

Variant appearance in text: rs146648044
PubMed Link: 30615648
Variant Present in the following documents:
  • pone.0210017.s002.xlsx, sheet 1
View BVdb publication page