RYR1 c.3064C>T ;(p.P1022S)

Variant ID: 19-38956924-C-T

NM_000540.2(RYR1):c.3064C>T;(p.P1022S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: RYR1: 3064C>T; Pro1022Ser
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma.

Nature Communications
Gallia, Gary L GL; Zhang, Ming M; Ning, Yi Y; Haffner, Michael C MC; Batista, Denise D; Binder, Zev A ZA; Bishop, Justin A JA; Hann, Christine L CL; Hruban, Ralph H RH; Ishii, Masaru M; Klein, Alison P AP; Reh, Douglas D DD; Rooper, Lisa M LM; Salmasi, Vafi V; Tamargo, Rafael J RJ; Wang, Qing Q; Williamson, Tara T; Zhao, Tianna T; Zou, Ying Y; Meeker, Alan K AK; Agrawal, Nishant N; Vogelstein, Bert B; Kinzler, Kenneth W KW; Papadopoulos, Nickolas N; Bettegowda, Chetan C
Publication Date: 2018-12-21

Variant appearance in text: RYR1: P1022S
PubMed Link: 30575736
Variant Present in the following documents:
  • 41467_2018_7578_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page