DMD c.240A>G ;(p.A80=)

Variant ID: X-32862924-T-C

NM_004006.2(DMD):c.240A>G;(p.A80=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.

Human Mutation
Ling, Chao C; Dai, Yi Y; Fang, Li L; Yao, Fengxia F; Liu, Zhe Z; Qiu, Zhengqing Z; Cui, Liying L; Xia, Fan F; Zhao, Chen C; Zhang, Shuyang S; Wang, Kai K; Zhang, Xue X
Publication Date: 2020-03

Variant appearance in text: DMD: A80A
PubMed Link: 31705731
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: DMD: 240A>G
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page