RYR1 c.7789A>G ;(p.K2597E)

Variant ID: 19-38993321-A-G

NM_000540.2(RYR1):c.7789A>G;(p.K2597E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.

Frontiers In Endocrinology
Tao, Xiaohui X; Liu, Li L; Yang, Xingguang X; Wei, Zhe Z; Chen, Zhongzhong Z; Zhang, Ge G; Zhang, Zhenlin Z; Yue, Hua H
Publication Date: 2022

Variant appearance in text: RYR1: 7789A>G; Lys2597Glu
PubMed Link: 35355568
Variant Present in the following documents:
  • Main text
  • fendo-13-850462.pdf
View BVdb publication page