SMARCA4 c.1943+1G>T

Variant ID: 19-11113836-G-T

NM_003072.3(SMARCA4):c.1943+1G>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.

Acta Neuropathologica
Holdhof, Dörthe D; Johann, Pascal D PD; Spohn, Michael M; Bockmayr, Michael M; Safaei, Sepehr S; Joshi, Piyush P; Masliah-Planchon, Julien J; Ho, Ben B; Andrianteranagna, Mamy M; Bourdeaut, Franck F; Huang, Annie A; Kool, Marcel M; Upadhyaya, Santhosh A SA; Bendel, Anne E AE; Indenbirken, Daniela D; Foulkes, William D WD; Bush, Jonathan W JW; Creytens, David D; Kordes, Uwe U; Frühwald, Michael C MC; Hasselblatt, Martin M; Schüller, Ulrich U
Publication Date: 2021-02

Variant appearance in text: SMARCA4: 1943+1G>T
PubMed Link: 33331994
Variant Present in the following documents:
  • 401_2020_2250_MOESM1_ESM.pdf
View BVdb publication page



SMARCA4-Deficient Thoracic Sarcomatoid Tumors Represent Primarily Smoking-Related Undifferentiated Carcinomas Rather Than Primary Thoracic Sarcomas.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Rekhtman, Natasha N; Montecalvo, Joseph J; Chang, Jason C JC; Alex, Deepu D; Ptashkin, Ryan N RN; Ai, Ni N; Sauter, Jennifer L JL; Kezlarian, Brie B; Jungbluth, Achim A; Desmeules, Patrice P; Beras, Amanda A; Bishop, Justin A JA; Plodkowski, Andrew J AJ; Gounder, Mrinal M MM; Schoenfeld, Adam J AJ; Namakydoust, Azadeh A; Li, Bob T BT; Rudin, Charles M CM; Riely, Gregory J GJ; Jones, David R DR; Ladanyi, Marc M; Travis, William D WD
Publication Date: 2020-02

Variant appearance in text: SMARCA4: 1943+1G>T
PubMed Link: 31751681
Variant Present in the following documents:
  • NIHMS1547998-supplement-1.xlsx, sheet 7
View BVdb publication page