COG1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- COG1 (HGNC:6545) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- component of oligomeric golgi complex 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- LDLB
- Alias symbols
- KIAA1381
- %HI
- 67.93(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
- 17q25.1
- Genomic Coordinates
-
GRCh37/hg19: chr17:71189194-71204646 NCBI Ensembl UCSC GRCh38/hg38: chr17:73193055-73208507 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018714.3 ENST00000299886.9 (Read more about MANE Select)
- Function
- Required for normal Golgi function. {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26343
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:
- COG1-congenital disorder of glycosylation Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)