CNPY3 Chromosome 6
Canopy FGF signaling regulator 3
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What This Gene Does
This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Canopy FGF signaling regulators
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000137161
Associated Conditions (2)
Developmental and epileptic encephalopathy
60
Key Variants
RS570105218
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy
Health Risk
RS1197219692
Likely pathogenic
Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy
Health Risk
RS1581718297
Likely pathogenic
Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy
Health Risk
RS1768394971
Likely pathogenic
Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy
Health Risk
RS1554123960
Pathogenic
Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy
Health Risk
RS1554292759
Pathogenic
Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy
Health Risk
RS1554292820
Pathogenic
Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy
Health Risk
RS2481078839
Pathogenic
Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS570105218 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy |
| RS1197219692 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy |
| RS1581718297 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy |
| RS1768394971 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy |
| RS1554123960 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy |
| RS1554292759 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy |
| RS1554292820 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy |
| RS2481078839 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 60, Developmental and epileptic encephalopathy |