RYR1 c.3437A>G ;(p.D1146G)

Variant ID: 19-38959661-A-G

NM_000540.2(RYR1):c.3437A>G;(p.D1146G)

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:

Delineation of dual molecular diagnosis in patients with skeletal deformity.

Orphanet Journal Of Rare Diseases
Liu, Lian L; Sun, Liying L; Chen, Yujun Y; Wang, Muchuan M; Yu, Chenxi C; Huang, Yingzhao Y; Zhao, Sen S; Du, Huakang H; Chen, Shaoke S; Fan, Xin X; Tian, Wen W; Wu, Zhihong Z; , ; Qiu, Guixing G; Zhang, Terry Jianguo TJ; Wu, Nan N
Publication Date: 2022-03-28

Variant appearance in text: RYR1: 3437A>G
PubMed Link: 35346302
Variant Present in the following documents:
  • 13023_2022_Article_2293.pdf
View BVdb publication page