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RYR1 c.728T>C ;(p.L243P)
Variant ID: 19-38937336-T-C
NM_000540.2(
RYR1
):c.728T>C;(p.L243P)
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:
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.
Journal Of Neuromuscular Diseases
Werlauff, U U; Petri, H H; Witting, N N; Vissing, J J
Publication Date: 2015-06-04
Variant appearance in text: RYR1: 728T>C
PubMed Link:
27858727
Variant Present in the following documents:
Main text
jnd-2-2-jnd140040.pdf
View BVdb publication page