DMD c.4317A>T ;(p.R1439S)

Variant ID: X-32408215-T-A

NM_004006.2(DMD):c.4317A>T;(p.R1439S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.

Bmc Genomic Data
Bartsch, Lorenz L; Schroeder, Michael P MP; Hänzelmann, Sonja S; Bastian, Lorenz L; Lázaro-Navarro, Juan J; Schlee, Cornelia C; Tanchez, Jutta Ortiz JO; Schulze, Veronika V; Isaakidis, Konstandina K; Rieger, Michael A MA; Gökbuget, Nicola N; Eckert, Cornelia C; Serve, Hubert H; Horstmann, Martin M; Schrappe, Martin M; Brüggemann, Monika M; Baldus, Claudia D CD; Neumann, Martin M
Publication Date: 2022-04-18

Variant appearance in text: DMD: R1439S
PubMed Link: 35436854
Variant Present in the following documents:
  • 12863_2022_1041_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: DMD: R1439S
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page