• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LAMA1 (HGNC:6481) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
laminin subunit alpha 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LAMA
Alias symbols
No aliases found
%HI
60.73(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.62(Read more about gnomAD LOEUF score)
Cytoband
18p11.31
Genomic Coordinates
GRCh37/hg19: chr18:6941741-7117796 NCBI Ensembl UCSC
GRCh38/hg38: chr18:6941742-7117797 NCBI Ensembl UCSC
MANE Select Transcript
NM_005559.4 ENST00000389658.4 (Read more about MANE Select)
Function
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2430
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)