RYR1 c.6982G>A ;(p.G2328R)

Variant ID: 19-38989838-G-A

NM_000540.2(RYR1):c.6982G>A;(p.G2328R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: RYR1: G2328R
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: RYR1: G2328R
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.

Scientific Reports
Wang, Yan Y; Peng, Wei W; Guo, Hong-Yan HY; Li, Hui H; Tian, Jie J; Shi, Yu-Jing YJ; Yang, Xiao X; Yang, Yao Y; Zhang, Wan-Qiao WQ; Liu, Xin X; Liu, Guan-Nan GN; Deng, Tao T; Sun, Yi-Min YM; Xing, Wan-Li WL; Cheng, Jing J; Feng, Zhi-Chun ZC
Publication Date: 2016-06-29

Variant appearance in text: RYR1: 6982G>A; Gly2328Arg
PubMed Link: 27353517
Variant Present in the following documents:
  • Main text
  • srep29088.pdf
View BVdb publication page