ALS2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ALS2 (HGNC:443) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
alsin Rho guanine nucleotide exchange factor ALS2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ALS2CR6
Alias symbols
No aliases found
%HI
15.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.65(Read more about gnomAD LOEUF score)
Cytoband
2q33.1
Genomic Coordinates
GRCh37/hg19: chr2:202564990-202645656 NCBI Ensembl UCSC
GRCh38/hg38: chr2:201700267-201780933 NCBI Ensembl UCSC
MANE Select Transcript
NM_020919.4 ENST00000264276.11 (Read more about MANE Select)
Function
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31581
ClinGen Curation ID:
CCID:006658
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)