The OBSL1 gene homepage

General information
Gene symbol OBSL1
Gene name obscurin-like 1
Chromosome 2
Chromosomal band q35
Imprinted Unknown
Genomic reference NG_016977.1
Transcript reference NM_001173408.1
Associated with diseases 3M2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 141
Unique public DNA variants reported 113
Individuals with public variants 93
Hidden variants 8
Date created May 03, 2013
Date last updated May 09, 2022
Version OBSL1:220509

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 29092
Entrez Gene 23363
PubMed articles OBSL1
OMIM - Gene 610991
OMIM - Diseases 3M2 (3M syndrome, type 2 (3M2))
Orphanet OBSL1

Active transcripts




NCBI ID     

NCBI Protein ID     

00014990 2 transcript variant 3 NM_001173408.1 NP_001166879.1 141

Copyright & disclaimer
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