DMD c.4000G>A ;(p.G1334R)

Variant ID: X-32456429-C-T

NM_004006.2(DMD):c.4000G>A;(p.G1334R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications
Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2020-05-04

Variant appearance in text: DMD: 4000G>A; Gly1334Arg
PubMed Link: 32366847
Variant Present in the following documents:
  • 41467_2020_15768_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.

Bmc Bioinformatics
Zhou, Jiapeng J; Xin, Jing J; Niu, Yayun Y; Wu, Shiwen S
Publication Date: 2017-02-02

Variant appearance in text: DMD: 4000G>A; Gly1334Arg
PubMed Link: 28152980
Variant Present in the following documents:
  • Main text
  • 12859_2017_Article_1504.pdf
View BVdb publication page