The RMRP gene homepage

General information
Gene symbol RMRP
Gene name RNA component of mitochondrial RNA processing endoribonuclease
Chromosome 9
Chromosomal band p21-p12
Imprinted Unknown
Genomic reference NG_017041.1
Transcript reference NR_003051.3
Associated with diseases CHH, Anauxetic dysplasia, dysplasia, metaphyseal, without hypotrichosis
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 124
Unique public DNA variants reported 114
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created June 27, 2012
Date last updated February 08, 2021
Version RMRP:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/RMRP
External URL Finnish Disease Database (FinDis)
HGNC 10031
Entrez Gene 6023
PubMed articles RMRP
OMIM - Gene 157660
OMIM - Diseases CHH (cartilage-hair hypoplasia (CHH))
Anauxetic dysplasia
dysplasia, metaphyseal, without hypotrichosis
HGMD RMRP
GeneCards RMRP
GeneTests RMRP
Orphanet RMRP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000246 9 RNA component of mitochondrial RNA processing endoribonuclease NR_003051.3 - 124


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2021. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.