LRPPRC gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol LRPPRC
Gene name leucine-rich pentatricopeptide repeat containing
Chromosome 2
Chromosomal band p21
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_133259.3
Associated with diseases LSFC
Citation reference(s) -
Curators (0) -
Total number of public variants reported 169
Unique public DNA variants reported 168
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013

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
HGNC 15714
Entrez Gene 10128
PubMed articles LRPPRC
OMIM - Gene 607544
OMIM - Diseases LSFC (Leigh syndrome, French-Canadian type, 220111 (3))
HGMD LRPPRC
GeneCards LRPPRC
GeneTests LRPPRC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000168 2 leucine-rich PPR-motif containing NM_133259.3 NP_573566.2 169


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium