DMD c.7016A>G ;(p.H2339R)

Variant ID: X-31893387-T-C

NM_004006.2(DMD):c.7016A>G;(p.H2339R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: DMD: 7016A>G; His2339Arg
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges.

Prenatal Diagnosis
Cohen, Gal G; Shtorch-Asor, Atalia A; Ben-Shachar, Shay S; Goldfarb-Yaacobi, Racheli R; Kaiser, Meirav M; Rosenfeld, Revital R; Vinovezky, Mika M; Irge, Dana D; Furman, Yael Y; Reiss, Dafni D; Litz-Philipsborn, Shira S; Sukenik-Halevy, Rivka R
Publication Date: 2022-08

Variant appearance in text: DMD: 7016A>G
PubMed Link: 35751502
Variant Present in the following documents:
  • Main text
  • PD-42-1162.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: DMD: 7016A>G; H2339R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.

Plos One
Mohammed, Fawziah F; Elshafey, Alaa A; Al-Balool, Haya H; Alaboud, Hayat H; Al Ben Ali, Mohammed M; Baqer, Adel A; Bastaki, Laila L
Publication Date: 2018

Variant appearance in text: DMD: 7016A>G; H2339R
PubMed Link: 29847600
Variant Present in the following documents:
  • Main text
  • pone.0197205.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DMD: 7016A>G; His2339Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page