ALG2 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ALG2 (HGNC:23159) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ALG2 alpha-1,3/1,6-mannosyltransferase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- CDGIi, FLJ14511, hALPG2, NET38, CDG1I
- %HI
- 54.65(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.41(Read more about gnomAD LOEUF score)
- Cytoband
- 9q22.33
- Genomic Coordinates
-
GRCh37/hg19: chr9:101978707-101984224 NCBI Ensembl UCSC GRCh38/hg38: chr9:99216425-99221942 NCBI Ensembl UCSC - MANE Select Transcript
- NM_033087.4 ENST00000476832.2 (Read more about MANE Select)
- Function
- Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. {ECO:0000269|PubMed:12684507}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-10355
ClinGen Curation ID:
CCID:006654
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- congenital myasthenic syndrome 14 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)