RYR1 c.4651G>A ;(p.V1551I)

Variant ID: 19-38973697-G-A

NM_000540.2(RYR1):c.4651G>A;(p.V1551I)

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:

Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma.

Bmc Medical Genomics
Ülgen, Ege E; Can, Özge Ö; Bilguvar, Kaya K; Akyerli Boylu, Cemaliye C; Kılıçturgay Yüksel, Şirin Ş; Erşen Danyeli, Ayça A; Sezerman, O Uğur OU; Yakıcıer, M Cengiz MC; Pamir, M Necmettin MN; Özduman, Koray K
Publication Date: 2021-02-23

Variant appearance in text: RYR1: V1551I
PubMed Link: 33622343
Variant Present in the following documents:
  • 12920_2021_904_MOESM1_ESM.pdf
View BVdb publication page