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LAMB1 |
Gene Facts External Data Attribution
- HGNC Symbol
- LAMB1 (HGNC:6486) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- laminin subunit beta 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CLM
- Alias symbols
- No aliases found
- %HI
- 29.07(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.6(Read more about gnomAD LOEUF score)
- Cytoband
- 7q31.1
- Genomic Coordinates
-
GRCh37/hg19: chr7:107564244-107643606 NCBI Ensembl UCSC GRCh38/hg38: chr7:107923799-108003161 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002291.3 ENST00000222399.11 (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. Involved in the organization of the laminar architecture of cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neur... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20186
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)
