RYR1 c.14859G>A ;(p.E4953=)

Variant ID: 19-39076633-G-A

NM_000540.2(RYR1):c.14859G>A;(p.E4953=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Nature Communications
Schwartz, Jason R JR; Ma, Jing J; Kamens, Jennifer J; Westover, Tamara T; Walsh, Michael P MP; Brady, Samuel W SW; Robert Michael, J J; Chen, Xiaolong X; Montefiori, Lindsey L; Song, Guangchun G; Wu, Gang G; Wu, Huiyun H; Branstetter, Cristyn C; Hiltenbrand, Ryan R; Walsh, Michael F MF; Nichols, Kim E KE; Maciaszek, Jamie L JL; Liu, Yanling Y; Kumar, Priyadarshini P; Easton, John J; Newman, Scott S; Rubnitz, Jeffrey E JE; Mullighan, Charles G CG; Pounds, Stanley S; Zhang, Jinghui J; Gruber, Tanja T; Ma, Xiaotu X; Klco, Jeffery M JM
Publication Date: 2021-02-12

Variant appearance in text: RYR1: E4953E
PubMed Link: 33579957
Variant Present in the following documents:
  • 41467_2021_21255_MOESM7_ESM.xlsx, sheet 1
  • 41467_2021_21255_MOESM24_ESM.xlsx, sheet 1
View BVdb publication page