RB1 c.380+12T>C

Variant ID: 13-48916862-T-C

NM_000321.2(RB1):c.380+12T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: rs3092881
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
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: RB1: 380+12T>C
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

Molecular Vision
Abidi, Omar O; Knari, Sara S; Sefri, Hajar H; Charif, Majida M; Senechal, Audrey A; Hamel, Christian C; Rouba, Hassan H; Zaghloul, Khalid K; El Kettani, Asmaa A; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2011

Variant appearance in text: RB1: 380+12T>C
PubMed Link: 22219649
Variant Present in the following documents:
  • Main text
  • mv-v17-3541.pdf
View BVdb publication page