SYNJ2BP-COX16
Basic information
Region (hg38): 14:70326064-70417074
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (6 variants)
- not provided (1 variants)
- Mitochondrial complex IV deficiency, nuclear type 22 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYNJ2BP-COX16 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 3 | |||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| Total | 1 | 0 | 4 | 0 | 0 |
Highest pathogenic variant AF is 0.0000329168
GnomAD
Source:
dbNSFP
Source:
Gene ontology
- Biological process
- chemical synaptic transmission;receptor clustering;establishment or maintenance of epithelial cell apical/basal polarity;receptor localization to synapse;cell-cell adhesion
- Cellular component
- ionotropic glutamate receptor complex;basolateral plasma membrane;cell junction;neuromuscular junction;mitochondrial membrane;neuron projection;postsynaptic density membrane
- Molecular function
- ionotropic glutamate receptor binding