RTN4IP1 gene homepage

A database from the MITOchondrial DYNamics variation portal.
General information
Gene symbol RTN4IP1
Gene name reticulon 4 interacting protein 1
Chromosome 6
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_047205.1
Transcript reference NM_032730.4
Exon/intron information NM_032730.4 exon/intron table
Associated with diseases OPA, OPA-10
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 10
Unique public DNA variants reported 4
Individuals with public variants 6
Hidden variants 0
Download all this gene's data Download all data
Notes A database from the MITOchondrial DYNamics variation portal.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated March 15, 2019
Version RTN4IP1:190315

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_032730.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/RTN4IP1
HGNC 18647
Entrez Gene 84816
PubMed articles RTN4IP1
OMIM - Gene 610502
OMIM - Diseases OPA-10 (atrophy, optic, type 10, with or without ataxia, mental retardation, and seizures (OPA-10))
HGMD RTN4IP1
GeneCards RTN4IP1
GeneTests RTN4IP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018293 6 reticulon 4 interacting protein 1 NM_032730.4 NP_116119.2 10


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.