DMD c.6223C>T ;(p.Q2075*)

Variant ID: X-32305713-G-A

NM_004006.2(DMD):c.6223C>T;(p.Q2075*)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: 6223C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page


Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02

Variant appearance in text: DMD: 6223C>T; Gln2075*
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page


Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2.

Communications Biology
Gardner, Heather L HL; Sivaprakasam, Karthigayini K; Briones, Natalia N; Zismann, Victoria V; Perdigones, Nieves N; Drenner, Kevin K; Facista, Salvatore S; Richholt, Ryan R; Liang, Winnie W; Aldrich, Jessica J; Trent, Jeffrey M JM; Shields, Peter G PG; Robinson, Nicholas N; Johnson, Jeremy J; Lana, Susan S; Houghton, Peter P; Fenger, Joelle J; Lorch, Gwendolen G; Janeway, Katherine A KA; London, Cheryl A CA; Hendricks, William P D WPD
Publication Date: 2019

Variant appearance in text: DMD: 6223C>T
PubMed Link: 31341965
Variant Present in the following documents:
  • 42003_2019_Article_487.pdf
View BVdb publication page


Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04

Variant appearance in text: DMD: 6223C>T; Gln2075*
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page