RB1 c.748C>T ;(p.P250S)

Variant ID: 13-48936980-C-T

NM_000321.2(RB1):c.748C>T;(p.P250S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: RB1: 748C>T; Pro250Ser
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One
Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R
Publication Date: 2021

Variant appearance in text: RB1: P250S
PubMed Link: 33556149
Variant Present in the following documents:
  • pone.0246048.s008.xlsx, sheet 1
View BVdb publication page



Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.

Molecular Oncology
Van Bockstal, Mieke R MR; Agahozo, Marie Colombe MC; van Marion, Ronald R; Atmodimedjo, Peggy N PN; Sleddens, Hein F B M HFBM; Dinjens, Winand N M WNM; Visser, Lindy L LL; Lips, Esther H EH; Wesseling, Jelle J; van Deurzen, Carolien H M CHM
Publication Date: 2020-04

Variant appearance in text: RB1: 748C>T; P250S
PubMed Link: 32058674
Variant Present in the following documents:
  • Main text
  • MOL2-14-671-s006.xlsx, sheet 1
View BVdb publication page