RB1 c.1169A>G ;(p.N390S)

Variant ID: 13-48947582-A-G

NM_000321.2(RB1):c.1169A>G;(p.N390S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: RB1: 1169A>G; Asn390Ser
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Somatic alterations in brain tumors.

Oncology Reports
Barnholtz-Sloan, Jill J; Sloan, Andrew E AE; Land, Susan S; Kupsky, William W; Monteiro, Alvaro N A AN
Publication Date: 2008-07

Variant appearance in text: RB1: N390S
PubMed Link: 18575738
Variant Present in the following documents:
  • Main text
View BVdb publication page