RYR1 c.1589G>T ;(p.R530L)

Variant ID: 19-38946103-G-T

NM_000540.2(RYR1):c.1589G>T;(p.R530L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pharmacogenes that demonstrate high association evidence according to CPIC, DPWG, and PharmGKB.

Frontiers In Medicine
Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Aziz, Mohammad A MA; Abohelaika, Salah S
Publication Date: 2022

Variant appearance in text: rs111888148
PubMed Link: 36388934
Variant Present in the following documents:
  • Main text
  • fmed-09-1001876.pdf
View BVdb publication page



A population study of clinically actionable genetic variation affecting drug response from the Middle East.

Npj Genomic Medicine
Jithesh, Puthen Veettil PV; Abuhaliqa, Mohammed M; Syed, Najeeb N; Ahmed, Ikhlak I; El Anbari, Mohammed M; Bastaki, Kholoud K; Sherif, Shimaa S; Umlai, Umm-Kulthum UK; Jan, Zainab Z; Gandhi, Geethanjali G; Manickam, Chidambaram C; Selvaraj, Senthil S; George, Chinnu C; Bangarusamy, Dhinoth D; Abdel-Latif, Rania R; Al-Shafai, Mashael M; Tatari-Calderone, Zohreh Z; Estivill, Xavier X; Pirmohamed, Munir M; ,
Publication Date: 2022-02-15

Variant appearance in text: rs111888148
PubMed Link: 35169154
Variant Present in the following documents:
  • Main text
  • 41525_2022_281_MOESM1_ESM.xlsx, sheet 11
  • 41525_2022_Article_281.pdf
View BVdb publication page



An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Li, Binglan B; Whirl-Carrillo, Michelle M; Wright, Matt W MW; Babb, Larry L; Rehm, Heidi L HL; Klein, Teri E TE
Publication Date: 2022

Variant appearance in text: rs111888148
PubMed Link: 34890165
Variant Present in the following documents:
  • Main text
  • nihms-1760621.pdf
View BVdb publication page



An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Li, Binglan B; Whirl-Carrillo, Michelle M; Wright, Matt W MW; Babb, Larry L; Rehm, Heidi L HL; Klein, Teri E TE
Publication Date: 2022

Variant appearance in text: rs111888148
PubMed Link: 34890165
Variant Present in the following documents:
  • Main text
  • nihms-1760621.pdf
View BVdb publication page



Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine
Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB
Publication Date: 2021-05-11

Variant appearance in text: rs111888148
PubMed Link: 34064668
Variant Present in the following documents:
  • Main text
  • jpm-11-00394.pdf
View BVdb publication page