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RYR1 c.9851G>A ;(p.W3284*)
Variant ID: 19-39008164-G-A
NM_000540.2(
RYR1
):c.9851G>A;(p.W3284*)
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:
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.
Bmc Musculoskeletal Disorders
Kariminejad, Ariana A; Ghaderi-Sohi, Siavash S; Hossein-Nejad Nedai, Hamid H; Varasteh, Vahid V; Moslemi, Ali-Reza AR; Tajsharghi, Homa H
Publication Date: 2016-03-01
Variant appearance in text: RYR1: 9851G>A; Trp3284Ter
PubMed Link:
26932181
Variant Present in the following documents:
Main text
12891_2016_Article_947.pdf
View BVdb publication page