DMD c.4777G>T ;(p.E1593*)

Variant ID: X-32398695-C-A

NM_004006.2(DMD):c.4777G>T;(p.E1593*)

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:

New trends in aminoglycosides use.

Medchemcomm
Fosso, Marina Y MY; Li, Yijia Y; Garneau-Tsodikova, Sylvie S
Publication Date: 2014-08-01

Variant appearance in text: DMD: E1593X
PubMed Link: 25071928
Variant Present in the following documents:
  • Main text
View BVdb publication page


Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups.

Nature Communications
,
Publication Date: 2013

Variant appearance in text: DMD: 4777G>T; E1593*
PubMed Link: 24292195
Variant Present in the following documents:
  • ncomms3873-s2.xls, sheet 1
View BVdb publication page