RYR1 c.14458G>C ;(p.G4820R)

Variant ID: 19-39070715-G-C

NM_000540.2(RYR1):c.14458G>C;(p.G4820R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: RYR1: G4820R
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings.

Journal Of Athletic Training
Hosokawa, Yuri Y; Casa, Douglas J DJ; Rosenberg, Henry H; Capacchione, John F JF; Sagui, Emmanuel E; Riazi, Sheila S; Belval, Luke N LN; Deuster, Patricia A PA; Jardine, John F JF; Kavouras, Stavros A SA; Lee, Elaine C EC; Miller, Kevin C KC; Muldoon, Sheila M SM; O'Connor, Francis G FG; Sailor, Scott R SR; Sambuughin, Nyamkhishig N; Stearns, Rebecca L RL; Adams, William M WM; Huggins, Robert A RA; Vandermark, Lesley W LW
Publication Date: 2017-04

Variant appearance in text: RYR1: Gly4820Arg
PubMed Link: 28430550
Variant Present in the following documents:
  • Main text
View BVdb publication page