The RPS23 gene homepage

General information
Gene symbol RPS23
Gene name ribosomal protein S23
Chromosome 5
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_001025.4
Exon/intron information NM_001025.4 exon/intron table
Associated with diseases BTDD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Marc Pieterse
Total number of public variants reported 6
Unique public DNA variants reported 3
Individuals with public variants 3
Hidden variants -
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 June 17, 2020
Version RPS23:200617

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_001025.4.
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/RPS23
External URL RPS23 blogspot
HGNC 10410
Entrez Gene 6228
PubMed articles RPS23
OMIM - Gene 603683
OMIM - Diseases BTDD (brachycephaly, trichomegaly, and developmental delay (BTDD, MacInnes syndrome (MCINS)))
HGMD RPS23
GeneCards RPS23
GeneTests RPS23
Orphanet RPS23


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018205 5 ribosomal protein S23 NM_001025.4 NP_001016.1 6


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