The RPL5 gene homepage

General information
Gene symbol RPL5
Gene name ribosomal protein L5
Chromosome 1
Chromosomal band p22.1
Imprinted Unknown
Genomic reference LRG_1155
Transcript reference NM_000969.3
Exon/intron information NM_000969.3 exon/intron table
Associated with diseases DBA, DBA6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 140
Unique public DNA variants reported 79
Individuals with public variants 140
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome. Initial data were obtained from the "Diamond-Blackfan Anemia (DBA) Mutation Database", pioneered by Ilenia Boria and Ugo Ramenghi (Boria et al. 2010, PMID:20960466).
Date created May 03, 2013
Date last updated December 17, 2021
Version RPL5:211217

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_000969.3.
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/RPL5
HGNC 10360
Entrez Gene 6125
PubMed articles RPL5
OMIM - Gene 603634
OMIM - Diseases DBA6 (anemia, Diamond-Blackfan, type 6 (DBA6, Aase syndrome))
HGMD RPL5
GeneCards RPL5
GeneTests RPL5
Orphanet RPL5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018078 1 ribosomal protein L5 NM_000969.3 NP_000960.2 140


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