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RYR1 c.2682G>T ;(p.P894=)
Variant ID: 19-38954167-G-T
NM_000540.2(
RYR1
):c.2682G>T;(p.P894=)
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 novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29
Variant appearance in text: RYR1: P894P
PubMed Link:
30497413
Variant Present in the following documents:
12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page