NEUROG3 Chromosome 10
Neurogenin 3
Upload your DNA to see your personal genotypes for variants in NEUROG3.
What This Gene Does
The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000122859
Associated Conditions (3)
Congenital malabsorptive diarrhea 4
NEUROG3-related disorder
Inborn genetic diseases
Key Variants
RS143182569
Conflicting classifications of pathogenicity
Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
Health Risk
RS146974265
Conflicting classifications of pathogenicity
NEUROG3-related disorder, Inborn genetic diseases, Congenital malabsorptive diarrhea 4
Health Risk
RS774554213
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2133226986
Likely pathogenic
Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
Health Risk
RS1444297448
Pathogenic
Health Risk
RS1461650439
Pathogenic
Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
Health Risk
RS1839233961
Pathogenic
Health Risk
RS2133227010
Pathogenic
Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
Health Risk
RS2133227148
Pathogenic
Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
Health Risk
RS2540710558
Pathogenic
Health Risk
RS369879321
Pathogenic
Health Risk
RS121917837
Pathogenic/Likely pathogenic
Congenital malabsorptive diarrhea 4, NEUROG3-related disorder, Congenital malabsorptive diarrhea 4
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143182569 | Health Risk | Conflicting classifications of pathogenicity | Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4 |
| RS146974265 | Health Risk | Conflicting classifications of pathogenicity | NEUROG3-related disorder, Inborn genetic diseases, Congenital malabsorptive diarrhea 4 |
| RS774554213 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2133226986 | Health Risk | Likely pathogenic | Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4 |
| RS1444297448 | Health Risk | Pathogenic | — |
| RS1461650439 | Health Risk | Pathogenic | Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4 |
| RS1839233961 | Health Risk | Pathogenic | — |
| RS2133227010 | Health Risk | Pathogenic | Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4 |
| RS2133227148 | Health Risk | Pathogenic | Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4 |
| RS2540710558 | Health Risk | Pathogenic | — |
| RS369879321 | Health Risk | Pathogenic | — |
| RS121917837 | Health Risk | Pathogenic/Likely pathogenic | Congenital malabsorptive diarrhea 4, NEUROG3-related disorder, Congenital malabsorptive diarrhea 4 |
| RS121917838 | Health Risk | Pathogenic/Likely pathogenic | Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4 |
| RS747088640 | Health Risk | Pathogenic/Likely pathogenic | Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4 |