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DMD c.6439G>A ;(p.E2147K)
Variant ID: X-31986631-C-T
NM_004006.2(
DMD
):c.6439G>A;(p.E2147K)
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:
Cancer carrier screening in the general population using whole-genome sequencing.
Cancer Medicine
Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG
Publication Date: 2022-07-21
Variant appearance in text: DMD: Glu2147Lys; rs1241182813
PubMed Link:
35861108
Variant Present in the following documents:
CAM4-12-1972-s007.xlsx, sheet 1
View BVdb publication page
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08
Variant appearance in text: DMD: 6439G>A; E2147K
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page