RYR1 c.9047A>G ;(p.Y3016C)

Variant ID: 19-39001346-A-G

NM_000540.2(RYR1):c.9047A>G;(p.Y3016C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: RYR1: 9047A>G; Tyr3016Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

Plos One
Attali, Ruben R; Aharoni, Sharon S; Treves, Susan S; Rokach, Ori O; Becker Cohen, Michal M; Fellig, Yakov Y; Straussberg, Rachel R; Dor, Talya T; Daana, Muhannad M; Mitrani-Rosenbaum, Stella S; Nevo, Yoram Y
Publication Date: 2013

Variant appearance in text: RYR1: 9047A>G
PubMed Link: 23894444
Variant Present in the following documents:
  • Main text
  • pone.0069296.pdf
View BVdb publication page