RB1 c.2211+1G>A

Variant ID: 13-49037972-G-A

NM_000321.2(RB1):c.2211+1G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Rb Tumor Suppressor in Small Cell Lung Cancer: Combined Genomic and IHC Analysis with a Description of a Distinct Rb-Proficient Subset.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Febres-Aldana, Christopher A CA; Chang, Jason C JC; Ptashkin, Ryan R; Wang, Yuhan Y; Gedvilaite, Erika E; Baine, Marina K MK; Travis, William D WD; Ventura, Katia K; Bodd, Francis F; Yu, Helena A HA; Quintanal-Villalonga, Alvaro A; Lai, W Victoria WV; Egger, Jacklynn V JV; Offin, Michael M; Ladanyi, Marc M; Rudin, Charles M CM; Rekhtman, Natasha N
Publication Date: 2022-11-01

Variant appearance in text: RB1: 2211+1G>A
PubMed Link: 35792876
Variant Present in the following documents:
  • ccr-22-1115_supplementary_tables_1_suppts1.xlsx, sheet 6
View BVdb publication page



Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

Molecular Vision
Nguyen, Ha Hai HH; Nguyen, Hoa Thi Thanh HTT; Vu, Nhung Phuong NP; Le, Quynh Thuy QT; Pham, Chau Minh CM; Huyen, Thuong Thi TT; Manh, Hung H; Pham, Hang Le Bich HLB; Nguyen, Ton Dang TD; Le, Hien Thi Thu HTT; Van Nong, Hai H
Publication Date: 2018

Variant appearance in text: RB1: 2211+1G>A
PubMed Link: 29568217
Variant Present in the following documents:
  • Main text
  • mv-v24-231.pdf
View BVdb publication page



Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Nature Communications
Kovac, Michal M; Blattmann, Claudia C; Ribi, Sebastian S; Smida, Jan J; Mueller, Nikola S NS; Engert, Florian F; Castro-Giner, Francesc F; Weischenfeldt, Joachim J; Kovacova, Monika M; Krieg, Andreas A; Andreou, Dimosthenis D; Tunn, Per-Ulf PU; Dürr, Hans Roland HR; Rechl, Hans H; Schaser, Klaus-Dieter KD; Melcher, Ingo I; Burdach, Stefan S; Kulozik, Andreas A; Specht, Katja K; Heinimann, Karl K; Fulda, Simone S; Bielack, Stefan S; Jundt, Gernot G; Tomlinson, Ian I; Korbel, Jan O JO; Nathrath, Michaela M; Baumhoer, Daniel D
Publication Date: 2015-12-03

Variant appearance in text: RB1: 2211+1G>A
PubMed Link: 26632267
Variant Present in the following documents:
  • ncomms9940-s2.xlsx, sheet 1
  • ncomms9940-s1.pdf
View BVdb publication page