RYR1 c.12809C>A ;(p.A4270E)

Variant ID: 19-39055783-C-A

NM_000540.2(RYR1):c.12809C>A;(p.A4270E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Journal Of Clinical Medicine
Potulska-Chromik, Anna A; Jędrzejowska, Maria M; Gos, Monika M; Rosiak, Edyta E; Kierdaszuk, Biruta B; Maruszak, Aleksandra A; Opuchlik, Andrzej A; Zekanowski, Cezary C; Fichna, Jakub P JP
Publication Date: 2021-02-26

Variant appearance in text: RYR1: 12809C>A
PubMed Link: 33652732
Variant Present in the following documents:
  • Main text
  • jcm-10-00914.pdf
View BVdb publication page