RB1 c.2127T>A ;(p.Y709*)

Variant ID: 13-49037887-T-A

NM_000321.2(RB1):c.2127T>A;(p.Y709*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evaluation of Targeted Next-Generation Sequencing for the Management of Patients Diagnosed with a Cancer of Unknown Primary.

The Oncologist
Fusco, Michael J MJ; Knepper, Todd C TC; Balliu, Juliana J; Del Cueto, Alex A; Laborde, Jose M JM; Hooda, Sharjeel M SM; Brohl, Andrew S AS; Bui, Marilyn M MM; Hicks, J Kevin JK
Publication Date: 2022-02-03

Variant appearance in text: RB1: Y709*
PubMed Link: 35305098
Variant Present in the following documents:
  • oyab014_suppl_supplementary_appendix_1.xlsx, sheet 1
View BVdb publication page



Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision
Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P
Publication Date: 2021

Variant appearance in text: RB1: 2127T>A; Y709X
PubMed Link: 33456302
Variant Present in the following documents:
  • Main text
  • mv-v27-1.pdf
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: RB1: 2127T>A; Y709*
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page