RYR1 c.8518_8520delinsTGT ;(p.R2840C)

Variant ID: 19-38996563-CGG-TGT

NM_000540.2(RYR1):c.8518_8520delinsTGT;(p.R2840C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: RYR1: Arg2840Cys
PubMed Link: 31980526
Variant Present in the following documents:
  • Main text
  • pnas.201909378.pdf
View BVdb publication page