RYR1 c.2603G>A ;(p.R868H)

Variant ID: 19-38954088-G-A

NM_000540.2(RYR1):c.2603G>A;(p.R868H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus.

Bmc Medical Genomics
Zhao, Qiuling Q; Li, Xiaoduo X; Liu, Li L; Zhang, Xu X; Pan, Xin X; Yao, Hong H; Ma, Yongyi Y; Tan, Bo B
Publication Date: 2022-09-21

Variant appearance in text: RYR1: Arg868His
PubMed Link: 36131268
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1358.pdf
View BVdb publication page



Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: RYR1: 2603G>A; Arg868His; rs750938678
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: RYR1: R868H
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: RYR1: R868H
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page