DMD c.6352C>T ;(p.Q2118*)

Variant ID: X-32235119-G-A

NM_004006.2(DMD):c.6352C>T;(p.Q2118*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: DMD: Q2118*
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.

Plos One
Chen, Chen C; Ma, Hongwei H; Zhang, Feng F; Chen, Lu L; Xing, Xuesha X; Wang, Shusen S; Zhang, Xue X; Luo, Yang Y
Publication Date: 2014

Variant appearance in text: DMD: 6352C>T; Gln2118*
PubMed Link: 25244321
Variant Present in the following documents:
  • Main text
  • pone.0108038.pdf
View BVdb publication page



Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.

Plos One
Kang, Guhyun G; Hwang, Woo Cheol WC; Do, In-Gu IG; Wang, Kai K; Kang, So Young SY; Lee, Jeeyun J; Park, Se Hoon SH; Park, Joon Oh JO; Kang, Won Ki WK; Jang, Jiryeon J; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Min Ji MJ; Kim, Seonwoo S; Park, Cheol Keun CK; Kim, Kyoung-Mee KM
Publication Date: 2013

Variant appearance in text: DMD: 6352C>T
PubMed Link: 24376576
Variant Present in the following documents:
  • pone.0082770.s002.xls, sheet 1
View BVdb publication page



Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One
Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2013

Variant appearance in text: DMD: 6352C>T; Gln2118X
PubMed Link: 23536893
Variant Present in the following documents:
  • Main text
  • pone.0059916.pdf
View BVdb publication page