LMBR1 gene homepage

General information
Gene symbol LMBR1
Gene name limb region 1 homolog (mouse)
Chromosome 7
Chromosomal band q36.3
Imprinted Unknown
Genomic reference NG_009240.2
Transcript reference NM_022458.3
Exon/intron information NM_022458.3 exon/intron table
Associated with diseases ACHP, LSS, SDTY-4, THYP, Polydactyly, preaxial type II
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 16, 2012
Date last updated July 19, 2017
Version LMBR1:170719

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_022458.3.
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/LMBR1
External URL Orphanet
HGNC 13243
Entrez Gene 64327
PubMed articles LMBR1
OMIM - Gene 605522
OMIM - Diseases ACHP (acheiropody (ACHP))
LSS (Laurin-Sandrow syndrome (LSS))
SDTY-4 (syndactyly, type IV (SDTY-4))
THYP (tibia, hypoplastic or aplastic, with polydactyly (THYP))
Polydactyly, preaxial type II
HGMD LMBR1
GeneCards LMBR1
GeneTests LMBR1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011437 7 limb region 1 homolog (mouse) NM_022458.3 NP_071903.2 1


Copyright & disclaimer
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