RBM20 gene homepage

General information
Gene symbol RBM20
Gene name RNA binding motif protein 20
Chromosome 10
Chromosomal band q25.3
Imprinted Unknown
Genomic reference LRG_382
Transcript reference NM_001134363.1
Exon/intron information NM_001134363.1 exon/intron table
Associated with diseases CMD-1DD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 408
Unique public DNA variants reported 237
Individuals with public variants 35
Hidden variants 13
Download all this gene's data Download all data
Notes 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 April 11, 2019
Version RBM20:190411

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_001134363.1.
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 http://www.LOVD.nl/RBM20
HGNC 27424
Entrez Gene 282996
PubMed articles RBM20
OMIM - Gene 613171
OMIM - Diseases CMD-1DD (cardiomyopathy, dilated, type 1DD (CMD-1DD))
HGMD RBM20
GeneCards RBM20
GeneTests RBM20


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017518 10 RNA binding motif protein 20 NM_001134363.1 NP_001127835.1 408


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