RYR1 c.3176C>T ;(p.P1059L)

Variant ID: 19-38957036-C-T

NM_000540.2(RYR1):c.3176C>T;(p.P1059L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Frontiers In Genetics
Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2021

Variant appearance in text: RYR1: Pro1059Leu
PubMed Link: 34691145
Variant Present in the following documents:
  • fgene-12-709419.pdf
View BVdb publication page