RB1 c.2425del ;(p.L809*)

Variant ID: 13-49039436-AC-A

NM_000321.2(RB1):c.2425del;(p.L809*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Characterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy.

Nature Communications
Li, Hong-Tao HT; Xu, Liya L; Weisenberger, Daniel J DJ; Li, Meng M; Zhou, Wanding W; Peng, Chen-Ching CC; Stachelek, Kevin K; Cobrinik, David D; Liang, Gangning G; Berry, Jesse L JL
Publication Date: 2022-09-21

Variant appearance in text: RB1: 2425delC
PubMed Link: 36130950
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_33248.pdf
View BVdb publication page



Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes.

Ophthalmic Genetics
Xu, Liya L; Shen, Lishuang L; Polski, Ashley A; Prabakar, Rishvanth K RK; Shah, Rachana R; Jubran, Rima R; Kim, Jonathan W JW; Biegel, Jacklyn J; Kuhn, Peter P; Cobrinik, David D; Hicks, James J; Gai, Xiaowu X; Berry, Jesse L JL
Publication Date: 2020-12

Variant appearance in text: RB1: 2425del; Leu809*
PubMed Link: 32799607
Variant Present in the following documents:
  • Main text
View BVdb publication page