RYR1 c.12878C>T ;(p.A4293V)

Variant ID: 19-39055852-C-T

NM_000540.2(RYR1):c.12878C>T;(p.A4293V)

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:

Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.

Frontiers In Genetics
Luo, Xi X; Deng, Shan S; Jiang, Ying Y; Wang, Xiang X; Al-Raimi, Abdulrahman Mustafa Ahmed AMA; Wu, Long L; Liu, Xiaobin X; Song, Yu Y; Chen, Xiao X; Zhu, Feng F
Publication Date: 2020

Variant appearance in text: RYR1: 12878C>T; Ala4293Val
PubMed Link: 32528524
Variant Present in the following documents:
  • Main text
  • fgene-11-00479.pdf
View BVdb publication page