DMD c.2308A>T ;(p.K770*)

Variant ID: X-32519944-T-A

NM_004006.2(DMD):c.2308A>T;(p.K770*)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.

Life (Basel, Switzerland)
Niba, Emma Tabe Eko ETE; Awano, Hiroyuki H; Lee, Tomoko T; Takeshima, Yasuhiro Y; Shinohara, Masakazu M; Nishio, Hisahide H; Matsuo, Masafumi M
Publication Date: 2021-09-16

Variant appearance in text: DMD: 2308A>T
PubMed Link: 34575126
Variant Present in the following documents:
  • Main text
  • life-11-00978.pdf
View BVdb publication page


Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circulation. Genomic And Precision Medicine
Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J
Publication Date: 2018-01

Variant appearance in text: DMD: 2308A>T
PubMed Link: 29874176
Variant Present in the following documents:
  • hcg-11-e001782-s001.pdf
View BVdb publication page


A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09

Variant appearance in text: DMD: 2308A>T; Lys770X
PubMed Link: 29604111
Variant Present in the following documents:
  • Main text
View BVdb publication page


A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases
Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y
Publication Date: 2015-01-23

Variant appearance in text: DMD: 2308A>T; Lys770X
PubMed Link: 25612904
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_220.pdf
View BVdb publication page