RB1 c.1404dup ;(p.S469Ifs*6)

Variant ID: 13-48954202-T-TA

NM_000321.2(RB1):c.1404dup;(p.S469Ifs*6)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NAD+ depletion enhances reovirus-induced oncolysis in multiple myeloma.

Molecular Therapy Oncolytics
Kennedy, Barry E BE; Giacomantonio, Michael M; Murphy, J Patrick JP; Cutler, Samuel S; Sadek, Maryanne M; Konda, Prathyusha P; Paulo, Joao A JA; Pathak, Gopal P GP; Renkens, Saskia H J SHJ; Grieve, Stacy S; Pol, Jonathan J; Gygi, Steven P SP; Richardson, Christopher C; Gaston, Daniel D; Reiman, Anthony A; Kroemer, Guido G; Elnenaei, Manal O MO; Gujar, Shashi A SA
Publication Date: 2022-03-17

Variant appearance in text: RB1: 1404dupA
PubMed Link: 35284625
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.

Molecular And Clinical Oncology
Hoang, Chinh Quoc CQ; Duong, Hong-Quan HQ; Nguyen, Nguyen Thanh NT; Nguyen, Sy Anh Hao SAH; Nguyen, Cuong C; Nguyen, Bo Duy BD; Phung, Lan Tuyet LT; Nguyen, Dung Thuy DT; Pham, Chau Thi Minh CTM; Le Doan, Trang T; Tran, Mai Hoang MH
Publication Date: 2021-09

Variant appearance in text: RB1: 1403_1404insA; Ser469Ilefs*6
PubMed Link: 34277001
Variant Present in the following documents:
  • Main text
View BVdb publication page