RB1 c.2106+2T>G

Variant ID: 13-49033971-T-G

NM_000321.2(RB1):c.2106+2T>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Nature Communications
Liu, Jing J; Ottaviani, Daniela D; Sefta, Meriem M; Desbrousses, Céline C; Chapeaublanc, Elodie E; Aschero, Rosario R; Sirab, Nanor N; Lubieniecki, Fabiana F; Lamas, Gabriela G; Tonon, Laurie L; Dehainault, Catherine C; Hua, Clément C; Fréneaux, Paul P; Reichman, Sacha S; Karboul, Narjesse N; Biton, Anne A; Mirabal-Ortega, Liliana L; Larcher, Magalie M; Brulard, Céline C; Arrufat, Sandrine S; Nicolas, André A; Elarouci, Nabila N; Popova, Tatiana T; Némati, Fariba F; Decaudin, Didier D; Gentien, David D; Baulande, Sylvain S; Mariani, Odette O; Dufour, Florent F; Guibert, Sylvain S; Vallot, Céline C; Rouic, Livia Lumbroso-Le LL; Matet, Alexandre A; Desjardins, Laurence L; Pascual-Pasto, Guillem G; Suñol, Mariona M; Catala-Mora, Jaume J; Llano, Genoveva Correa GC; Couturier, Jérôme J; Barillot, Emmanuel E; Schaiquevich, Paula P; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Golmard, Lisa L; Houdayer, Claude C; Brisse, Hervé H; Bernard-Pierrot, Isabelle I; Letouzé, Eric E; Viari, Alain A; Saule, Simon S; Sastre-Garau, Xavier X; Doz, François F; Carcaboso, Angel M AM; Cassoux, Nathalie N; Pouponnot, Celio C; Goureau, Olivier O; Chantada, Guillermo G; de Reyniès, Aurélien A; Aerts, Isabelle I; Radvanyi, François F
Publication Date: 2021-09-22

Variant appearance in text: RB1: 2106+2T>G
PubMed Link: 34552068
Variant Present in the following documents:
  • 41467_2021_25792_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Plos One
Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS
Publication Date: 2017

Variant appearance in text: RB1: 2106+2T>G
PubMed Link: 28575107
Variant Present in the following documents:
  • Main text
  • pone.0178776.pdf
View BVdb publication page