RB1 c.13A>C ;(p.T5P)

Variant ID: 13-48878061-A-C

NM_000321.2(RB1):c.13A>C;(p.T5P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07

Variant appearance in text: RB1: 13A>C; Thr5Pro
PubMed Link: 34590037
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics
Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X
Publication Date: 2021-05-17

Variant appearance in text: RB1: T5P
PubMed Link: 34001105
Variant Present in the following documents:
  • 12920_2021_979_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: RB1: 13A>C; Thr5Pro
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 9
View BVdb publication page



Monitoring colorectal cancer following surgery using plasma circulating tumor DNA.

Oncology Letters
Sun, Xiao X; Huang, Tanxiao T; Cheng, Fangsheng F; Huang, Kaibing K; Liu, Ming M; He, Wan W; Li, Mingwei M; Zhang, Xiaoni X; Xu, Mingyan M; Chen, Shifu S; Xia, Ligang L
Publication Date: 2018-04

Variant appearance in text: RB1: T5P
PubMed Link: 29541205
Variant Present in the following documents:
  • Main text
  • ol-15-04-4365.pdf
View BVdb publication page



Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports
Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA
Publication Date: 2017-08-29

Variant appearance in text: RB1: T5P
PubMed Link: 28852190
Variant Present in the following documents:
  • 41598_2017_10432_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page