LRSAM1 gene homepage

General information
Gene symbol LRSAM1
Gene name leucine rich repeat and sterile alpha motif containing 1
Chromosome 9
Chromosomal band q34.13
Imprinted Unknown
Genomic reference LRG_373
Transcript reference NM_138361.4, NM_138361.5
Exon/intron information NM_138361.5 exon/intron table
Associated with diseases CMT-2P
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 44
Unique public DNA variants reported 36
Individuals with public variants 74
Hidden variants 2
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 21, 2019
Version LRSAM1:190621

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_138361.5.
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/LRSAM1
HGNC 25135
Entrez Gene 90678
PubMed articles LRSAM1
OMIM - Gene 610933
OMIM - Diseases CMT-2P (Charcot-Marie-Tooth disease, type 2P (CMT-2P))
HGMD LRSAM1
GeneCards LRSAM1
GeneTests LRSAM1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025365 9 transcript variant 1 NM_138361.5 NP_612370.3 43
00011520 9 transcript variant 1 NM_138361.4 NP_612370.3 9


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.