DMD c.7189C>T ;(p.Q2397*)

Variant ID: X-31854846-G-A

NM_004006.2(DMD):c.7189C>T;(p.Q2397*)

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:

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Acta Neuropathologica Communications
Becker, Nicole N; Moore, Steven A SA; Jones, Karra A KA
Publication Date: 2022-02-08

Variant appearance in text: DMD: 7189C>T; Q2397*
PubMed Link: 35135626
Variant Present in the following documents:
  • 40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page


The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Acta Neuropathologica Communications
Becker, Nicole N; Moore, Steven A SA; Jones, Karra A KA
Publication Date: 2022-02-08

Variant appearance in text: DMD: 7189C>T; Q2397*
PubMed Link: 35135626
Variant Present in the following documents:
  • 40478_2022_1320_MOESM1_ESM.pdf
View BVdb publication page


Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 7189C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page