RYR1 c.1640T>C ;(p.V547A)

Variant ID: 19-38946154-T-C

NM_000540.2(RYR1):c.1640T>C;(p.V547A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing in clear cell sarcoma of soft tissue uncovers novel prognostic categorization and drug targets.

Clinical And Translational Medicine
Li, Jingjing J; Chen, Chao C; Liu, Wei W; Liu, Songming S; Hu, Wanming W; Gao, Xiaoyan X; Liu, Geng G; Li, Dandan D; Ding, Ya Y; Wen, Xizhi X; Zhang, Xiuqing X; Hou, Yong Y; Zhang, Xing X; Li, Bo B; Zhang, Xiaoshi X; Zhang, Xi X
Publication Date: 2021-12

Variant appearance in text: RYR1: V547A
PubMed Link: 34923763
Variant Present in the following documents:
  • CTM2-11-e640-s002.xlsx, sheet 1
View BVdb publication page



Translating Pharmacogenetics and Pharmacogenomics to the Clinic: Progress in Human and Veterinary Medicine.

Frontiers In Veterinary Science
Campion, Deirdre P DP; Dowell, Fiona J FJ
Publication Date: 2019

Variant appearance in text: RYR1: V547A
PubMed Link: 30854372
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

American Journal Of Human Genetics
Sambuughin, N N; McWilliams, S S; de Bantel, A A; Sivakumar, K K; Nelson, T E TE
Publication Date: 2001-07

Variant appearance in text: RYR1: Val547Ala
PubMed Link: 11389482
Variant Present in the following documents:
  • Main text
View BVdb publication page