CNTN6 Chromosome 3

Contactin 6
2 variants 2 Health Risk

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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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"I-set domain containing|Contactins"
Locus Type
gene with protein product
Location
3p26.3
Ensembl
ENSG00000134115
Associated Conditions (2)
Autism spectrum disorder
Autistic behavior
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1336350265 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS773080572 Health Risk Likely pathogenic Autistic behavior, Autistic behavior
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