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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)