RB1 c.2267del ;(p.Y756Lfs*9)

Variant ID: 13-49039189-TA-T

NM_000321.2(RB1):c.2267del;(p.Y756Lfs*9)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Utility of different massive parallel sequencing platforms for mutation profiling in clinical samples and identification of pitfalls using FFPE tissue.

International Journal Of Molecular Medicine
Fassunke, Jana J; Haller, Florian F; Hebele, Simone S; Moskalev, Evgeny A EA; Penzel, Roland R; Pfarr, Nicole N; Merkelbach-Bruse, Sabine S; Endris, Volker V
Publication Date: 2015-11

Variant appearance in text: RB1: 2267delA; Y756fs
PubMed Link: 26352389
Variant Present in the following documents:
  • Main text
  • ijmm-36-05-1233.pdf
View BVdb publication page