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) Ridanpää et al. 2001
Curators (1) Juha Muilu
Total number of public variants reported 102
Unique public DNA variants reported 102
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes Only mutations associated with Cartilage-hair hypoplasia (MIM#250250) are shown in this database (mutations may also cause Anauxetic dysplasia, MIM#607095, or Metaphyseal dysplasia without hypotrichosis, MIM#250460).

The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
Date created June 27, 2012
Date last updated May 05, 2017
Version RMRP:170505

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
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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000246 9 RNA component of mitochondrial RNA processing endoribonuclease NR_003051.3 - 102


Copyright & disclaimer
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