ASTN1 Chromosome 1
Astrotactin 1
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What This Gene Does
Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]
Gene Info
Gene Group
"Fibronectin type III domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q25.2
Ensembl
ENSG00000152092
Associated Conditions (2)
Abnormal corpus callosum morphology
Abnormal brain morphology
Key Variants
RS143440206
Conflicting classifications of pathogenicity
Health Risk
RS151246825
Conflicting classifications of pathogenicity
Abnormal corpus callosum morphology, Abnormal corpus callosum morphology
Health Risk
RS138686233
Likely pathogenic
Abnormal brain morphology, Abnormal brain morphology
Health Risk
RS199961480
Likely pathogenic
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143440206 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151246825 | Health Risk | Conflicting classifications of pathogenicity | Abnormal corpus callosum morphology, Abnormal corpus callosum morphology |
| RS138686233 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS199961480 | Health Risk | Likely pathogenic | — |