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DMD c.3622C>T ;(p.Q1208*)
Variant ID: X-32466737-G-A
NM_004006.2(
DMD
):c.3622C>T;(p.Q1208*)
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:
Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.
Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02
Variant appearance in text: DMD: 3622C>T; Gln1208*
PubMed Link:
34078427
Variant Present in the following documents:
13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page
Comprehensive genetic characteristics of dystrophinopathies in China.
Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04
Variant appearance in text: DMD: 3622C>T; Gln1208*
PubMed Link:
29973226
Variant Present in the following documents:
13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.
European Journal Of Human Genetics : Ejhg
Wei, Xiaoming X; Dai, Yi Y; Yu, Ping P; Qu, Ning N; Lan, Zhangzhang Z; Hong, Xiafei X; Sun, Yan Y; Yang, Guanghui G; Xie, Shuqi S; Shi, Quan Q; Zhou, Hanlin H; Zhu, Qian Q; Chu, Yuxing Y; Yao, Fengxia F; Wang, Jinming J; He, Jingni J; Yang, Yun Y; Liang, Yu Y; Yang, Yi Y; Qi, Ming M; Yang, Ling L; Wang, Wei W; Wu, Haitao H; Duan, Jing J; Shen, Cheng C; Wang, Jun J; Cui, Liying L; Yi, Xin X
Publication Date: 2014-01
Variant appearance in text: DMD: 3622C>T; Gln1208X
PubMed Link:
23756440
Variant Present in the following documents:
Main text
View BVdb publication page
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Plos One
Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2013
Variant appearance in text: DMD: 3622C>T; Gln1208X
PubMed Link:
23536893
Variant Present in the following documents:
Main text
pone.0059916.pdf
View BVdb publication page