CNTN1 Chromosome 12
Contactin 1
Upload your DNA to see your personal genotypes for variants in CNTN1.
What This Gene Does
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"I-set domain containing|Contactins"
Locus Type
gene with protein product
Location
12q12
Ensembl
ENSG00000018236
Associated Conditions (2)
Compton-North congenital myopathy
Inborn genetic diseases
Key Variants
RS1299674857
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy
Health Risk
RS138121813
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Compton-North congenital myopathy
Health Risk
RS141706688
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Compton-North congenital myopathy
Health Risk
RS142755965
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Compton-North congenital myopathy
Health Risk
RS199833589
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy
Health Risk
RS201534221
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy
Health Risk
RS201607834
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy
Health Risk
RS201639044
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy
Health Risk
RS2136919555
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Compton-North congenital myopathy
Health Risk
RS267603461
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy
Health Risk
RS746981200
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Compton-North congenital myopathy
Health Risk
RS768838928
Conflicting classifications of pathogenicity
Compton-North congenital myopathy, Compton-North congenital myopathy
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1299674857 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy |
| RS138121813 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS141706688 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS142755965 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS199833589 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy |
| RS201534221 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy |
| RS201607834 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy |
| RS201639044 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy |
| RS2136919555 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS267603461 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Inborn genetic diseases, Compton-North congenital myopathy |
| RS746981200 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS768838928 | Health Risk | Conflicting classifications of pathogenicity | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS1555185778 | Health Risk | Likely pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS2120818344 | Health Risk | Likely pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS2499292213 | Health Risk | Likely pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS374930846 | Health Risk | Likely pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS753826693 | Health Risk | Likely pathogenic | — |
| RS1174434961 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS1410982143 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS1555201269 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS1555201480 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS1565946117 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS1592283787 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS1592415275 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS2120819481 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS2136817458 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS2136952659 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS2499432719 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS2499488629 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS2499717946 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS587776718 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS756907367 | Health Risk | Pathogenic | Compton-North congenital myopathy, Compton-North congenital myopathy |