NEUROG1 Chromosome 5
Neurogenin 1
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What This Gene Does
Enables E-box binding activity and protein homodimerization activity. Involved in several processes, including cochlea morphogenesis; cranial nerve development; and hard palate morphogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000181965
Associated Conditions (4)
Cranial dysinnervation disorder
congenital
with absent corneal reflex and developmental delay
See cases
Key Variants
RS2126852672
Likely pathogenic
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
Health Risk
RS2481266925
Pathogenic
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
Health Risk
RS748453696
Pathogenic
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2126852672 | Health Risk | Likely pathogenic | Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay |
| RS2481266925 | Health Risk | Pathogenic | Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay |
| RS748453696 | Health Risk | Pathogenic | Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay |