COG7
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COG7 (HGNC:18622) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
component of oligomeric golgi complex 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
68.01(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
16p12.2
Genomic Coordinates
GRCh37/hg19: chr16:23399814-23464510 NCBI Ensembl UCSC
GRCh38/hg38: chr16:23388493-23453189 NCBI Ensembl UCSC
MANE Select Transcript
NM_153603.4 ENST00000307149.10 (Read more about MANE Select)
Function
Required for normal Golgi function. {ECO:0000269|PubMed:11980916}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36058
ClinGen Curation ID:
CCID:006899
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:
04/09/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • COG7-congenital disorder of glycosylation Monarch
HI Evidence Comments:
Variants in COG7 have been reported in individuals with congenital disorder of glycosylation type IIe, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)