Bibliome.ai browser hg19
Search
About
Stats
FAQ
DMD c.4857del ;(p.E1620Rfs*9)
Variant ID: X-32383304-CT-C
NM_004006.2(
DMD
):c.4857del;(p.E1620Rfs*9)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 4857delA
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
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: 4857delA
PubMed Link:
23756440
Variant Present in the following documents:
Main text
View BVdb publication page