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DMD c.1777C>T ;(p.Q593*)
Variant ID: X-32591682-G-A
NM_004006.2(
DMD
):c.1777C>T;(p.Q593*)
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:
Theragnosis for Duchenne Muscular Dystrophy.
Frontiers In Pharmacology
Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F
Publication Date: 2021
Variant appearance in text: DMD: 1777C>T; Gln593*
PubMed Link:
34149409
Variant Present in the following documents:
Main text
fphar-12-648390.pdf
View BVdb publication page
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: 1777C>T; Gln593*
PubMed Link:
34078427
Variant Present in the following documents:
13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: DMD: 1777C>T; Gln593Ter
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
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: 1777C>T; Gln593*
PubMed Link:
29973226
Variant Present in the following documents:
13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page