RB1 c.24A>C ;(p.K8N)

Variant ID: 13-48878072-A-C

NM_000321.2(RB1):c.24A>C;(p.K8N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: K8N
PubMed Link: 34001105
Variant Present in the following documents:
  • 12920_2021_979_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: RB1: 24A>C; K8N
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
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: K8N
PubMed Link: 29541205
Variant Present in the following documents:
  • Main text
  • ol-15-04-4365.pdf
View BVdb publication page