DMD c.4231C>T ;(p.Q1411*)

Variant ID: X-32429871-G-A

NM_004006.2(DMD):c.4231C>T;(p.Q1411*)

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:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DMD: 4231C>T; Gln1411Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09

Variant appearance in text: DMD: Gln1411X
PubMed Link: 29604111
Variant Present in the following documents:
  • Main text
View BVdb publication page


Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation.

Esc Heart Failure
Fayssoil, Abdallah A; Yaou, Rabah Ben RB; Ogna, Adam A; Leturcq, France F; Nardi, Olivier O; Clair, Bernard B; Wahbi, Karim K; Lofaso, Frederic F; Laforet, Pascal P; Duboc, Denis D; Orlikowski, David D; Annane, Djillali D
Publication Date: 2017-11

Variant appearance in text: DMD: 4231C>T; Gln1411X
PubMed Link: 29154419
Variant Present in the following documents:
  • Main text
  • EHF2-4-527.pdf
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: 4231C>T; Gln1411*
PubMed Link: 25244321
Variant Present in the following documents:
  • Main text
  • pone.0108038.pdf
View BVdb publication page