RYR1 c.7699C>T ;(p.P2567S)

Variant ID: 19-38993231-C-T

NM_000540.2(RYR1):c.7699C>T;(p.P2567S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The utility of exome sequencing for fetal pleural effusions.

Prenatal Diagnosis
Jelin, Angie C AC; Sobreira, Nara N; Wohler, Elizabeth E; Solomon, Benjamin B; Sparks, Teresa T; Sagaser, Katelynn G KG; Forster, Katherine R KR; Miller, Jena J; Witmer, P Dane PD; Hamosh, Ada A; Valle, David D; Blakemore, Karin K
Publication Date: 2020-04

Variant appearance in text: RYR1: P2567S
PubMed Link: 31994743
Variant Present in the following documents:
  • Main text
View BVdb publication page



Olaparib is effective in combination with, and as maintenance therapy after, first-line endocrine therapy in prostate cancer cells.

Molecular Oncology
Feiersinger, Gertrud E GE; Trattnig, Kristina K; Leitner, Peter D PD; Guggenberger, Fabian F; Oberhuber, Alexander A; Peer, Sarah S; Hermann, Martin M; Skvortsova, Ira I; Vrbkova, Jana J; Bouchal, Jan J; Culig, Zoran Z; Santer, Frédéric R FR
Publication Date: 2018-04

Variant appearance in text: RYR1: 7699C>T; P2567S
PubMed Link: 29465803
Variant Present in the following documents:
  • MOL2-12-561-s006.xlsx, sheet 3
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: RYR1: 7699C>T; P2567S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page