RB1 c.1549del ;(p.I517Ffs*2)

Variant ID: 13-48955433-GA-G

NM_000321.2(RB1):c.1549del;(p.I517Ffs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.

The Journal Of Molecular Diagnostics : Jmd
Li, Wenhui L WL; Buckley, Jonathan J; Sanchez-Lara, Pedro A PA; Maglinte, Dennis T DT; Viduetsky, Lucy L; Tatarinova, Tatiana V TV; Aparicio, Jennifer G JG; Kim, Jonathan W JW; Au, Margaret M; Ostrow, Dejerianne D; Lee, Thomas C TC; O'Gorman, Maurice M; Judkins, Alexander A; Cobrinik, David D; Triche, Timothy J TJ
Publication Date: 2016-07

Variant appearance in text: RB1: 1549delA
PubMed Link: 27155049
Variant Present in the following documents:
  • Main text
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