The OBSL1 gene homepage

General information
Gene symbol OBSL1
Gene name obscurin-like 1
Chromosome 2
Chromosomal band q35
Imprinted Unknown
Genomic reference NG_016977.2
Transcript reference NM_015311.2
Exon/intron information NM_015311.2 exon/intron table
Associated with diseases 3M2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 153
Unique public DNA variants reported 119
Individuals with public variants 176
Hidden variants -
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.
Date created May 03, 2013
Date last updated January 11, 2023
Version OBSL1:230111

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_015311.2.
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/OBSL1
HGNC 29092
Entrez Gene 23363
PubMed articles OBSL1
OMIM - Gene 610991
OMIM - Diseases 3M2 (3M syndrome, type 2 (3M2))
HGMD OBSL1
GeneCards OBSL1
GeneTests OBSL1
Orphanet OBSL1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025753 2 transcript variant 1 NM_015311.2 NP_056126.1 153


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