DMD c.6439G>A ;(p.E2147K)

Variant ID: X-31986631-C-T

NM_004006.2(DMD):c.6439G>A;(p.E2147K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cancer carrier screening in the general population using whole-genome sequencing.

Cancer Medicine
Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG
Publication Date: 2022-07-21

Variant appearance in text: DMD: Glu2147Lys; rs1241182813
PubMed Link: 35861108
Variant Present in the following documents:
  • CAM4-12-1972-s007.xlsx, sheet 1
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: DMD: 6439G>A; E2147K
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page