GAA c.2516A>G ;(p.Q839R)

Variant ID: 17-78092026-A-G

NM_000152.3(GAA):c.2516A>G;(p.Q839R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Clinical And Translational Medicine
Cong, Pei-Kuan PK; Khederzadeh, Saber S; Yuan, Cheng-Da CD; Ma, Rui-Jie RJ; Zhang, Yi-Yao YY; Liu, Jun-Quan JQ; Yu, Shi-Hui SH; Xu, Lin L; Gao, Jian-Hua JH; Pan, Hong-Xu HX; Li, Jin-Chen JC; Xie, Shu-Yang SY; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF
Publication Date: 2022-05

Variant appearance in text: GAA: 2516A>G
PubMed Link: 35538921
Variant Present in the following documents:
  • CTM2-12-e866.pdf
View BVdb publication page