SMN1 c.748_749delinsAC ;(p.C250T)

Variant ID: 5-70241917-TG-AC

NM_000344.3(SMN1):c.748_749delinsAC;(p.C250T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Oligosarcomas, IDH-mutant are distinct and aggressive.

Acta Neuropathologica
Suwala, Abigail K AK; Felix, Marius M; Friedel, Dennis D; Stichel, Damian D; Schrimpf, Daniel D; Hinz, Felix F; Hewer, Ekkehard E; Schweizer, Leonille L; Dohmen, Hildegard H; Pohl, Ute U; Staszewski, Ori O; Korshunov, Andrey A; Stein, Marco M; Wongsurawat, Thidathip T; Cheunsuacchon, Pornsuk P; Sathornsumetee, Sith S; Koelsche, Christian C; Turner, Clinton C; Le Rhun, Emilie E; Mühlebner, Angelika A; Schucht, Philippe P; Özduman, Koray K; Ono, Takahiro T; Shimizu, Hiroaki H; Prinz, Marco M; Acker, Till T; Herold-Mende, Christel C; Kessler, Tobias T; Wick, Wolfgang W; Capper, David D; Wesseling, Pieter P; Sahm, Felix F; von Deimling, Andreas A; Hartmann, Christian C; Reuss, David E DE
Publication Date: 2021-12-30

Variant appearance in text: SMA: C250T
PubMed Link: 34967922
Variant Present in the following documents:
  • Main text
  • 401_2021_Article_2395.pdf
View BVdb publication page



Oligosarcomas, IDH-mutant are distinct and aggressive.

Acta Neuropathologica
Suwala, Abigail K AK; Felix, Marius M; Friedel, Dennis D; Stichel, Damian D; Schrimpf, Daniel D; Hinz, Felix F; Hewer, Ekkehard E; Schweizer, Leonille L; Dohmen, Hildegard H; Pohl, Ute U; Staszewski, Ori O; Korshunov, Andrey A; Stein, Marco M; Wongsurawat, Thidathip T; Cheunsuacchon, Pornsuk P; Sathornsumetee, Sith S; Koelsche, Christian C; Turner, Clinton C; Le Rhun, Emilie E; Mühlebner, Angelika A; Schucht, Philippe P; Özduman, Koray K; Ono, Takahiro T; Shimizu, Hiroaki H; Prinz, Marco M; Acker, Till T; Herold-Mende, Christel C; Kessler, Tobias T; Wick, Wolfgang W; Capper, David D; Wesseling, Pieter P; Sahm, Felix F; von Deimling, Andreas A; Hartmann, Christian C; Reuss, David E DE
Publication Date: 2022-02

Variant appearance in text: SMA: C250T
PubMed Link: 34967922
Variant Present in the following documents:
  • Main text
  • 401_2021_Article_2395.pdf
View BVdb publication page



Bone Metastases of Glioblastoma: A Case Report and Review of the Literature.

Frontiers In Oncology
Zhang, Wei W; Cai, Yuan-Yuan YY; Wang, Xiao-Li XL; Wang, Xiao-Xiao XX; Li, Yang Y; Han, Gui-Yan GY; Chu, Yu-Jing YJ; Zhang, Yun-Xiang YX; Hao, Fu-Rong FR
Publication Date: 2021

Variant appearance in text: SMA: C250T
PubMed Link: 34646764
Variant Present in the following documents:
  • Main text
  • fonc-11-705455.pdf
View BVdb publication page



Glioblastoma multiforme: a multi-omics analysis of driver genes and tumour heterogeneity.

Interface Focus
Herrera-Oropeza, Gabriel Emilio GE; Angulo-Rojo, Carla C; Gástelum-López, Santos Alberto SA; Varela-Echavarría, Alfredo A; Hernández-Rosales, Maribel M; Aviña-Padilla, Katia K
Publication Date: 2021-06

Variant appearance in text: SMA: C250T
PubMed Link: 34123356
Variant Present in the following documents:
  • Main text
  • rsfs.2020.0072.pdf
View BVdb publication page



Cancer-specific loss of TERT activation sensitizes glioblastoma to DNA damage.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Amen, Alexandra M AM; Fellmann, Christof C; Soczek, Katarzyna M KM; Ren, Shawn M SM; Lew, Rachel J RJ; Knott, Gavin J GJ; Park, Jesslyn E JE; McKinney, Andrew M AM; Mancini, Andrew A; Doudna, Jennifer A JA; Costello, Joseph F JF
Publication Date: 2021-03-30

Variant appearance in text: SMA: C250T
PubMed Link: 33758097
Variant Present in the following documents:
  • pnas.202008772.pdf
View BVdb publication page