Bibliome.ai browser hg19
Search
About
Stats
FAQ
RYR1 c.7308_7309del ;(p.A2437Tfs*12)
Variant ID: 19-38990638-CTG-C
NM_000540.2(
RYR1
):c.7308_7309del;(p.A2437Tfs*12)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.
Neurology. Genetics
Witting, Nanna N; Werlauff, Ulla U; Duno, Morten M; Vissing, John J
Publication Date: 2017-04
Variant appearance in text: RYR1: 7308_7309delTG
PubMed Link:
28357410
Variant Present in the following documents:
NG2016003640.pdf
View BVdb publication page
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: 7308_7309delTG
PubMed Link:
27858727
Variant Present in the following documents:
Main text
View BVdb publication page
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11
Variant appearance in text: RYR1: 7308_7309delTG; Ala2437fs
PubMed Link:
27694994
Variant Present in the following documents:
NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page