LAMA1 |
- 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)