LAMA1 gene homepage

General information
Gene symbol LAMA1
Gene name laminin, alpha 1
Chromosome 18
Chromosomal band p11.3
Imprinted Unknown
Genomic reference NG_034251.1
Transcript reference NM_005559.3
Exon/intron information NM_005559.3 exon/intron table
Associated with diseases PTBHS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 122
Unique public DNA variants reported 105
Individuals with public variants 27
Hidden variants 0
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 December 20, 2015
Version LAMA1:151220

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_005559.3.
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
HGNC 6481
Entrez Gene 284217
PubMed articles LAMA1
OMIM - Gene 150320
OMIM - Diseases PTBHS (Poretti-Boltshauser syndrome (PTBHS))
GeneCards LAMA1
GeneTests LAMA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00010939 18 laminin, alpha 1 NM_005559.3 NP_005550.2 122

Copyright & disclaimer
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