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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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