BNC2 Chromosome 9
Basonuclin zinc finger protein 2
Upload your DNA to see your personal genotypes for variants in BNC2.
What This Gene Does
This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Basonuclin zinc finger proteins"
Locus Type
gene with protein product
Location
9p22.3-p22.2
Ensembl
ENSG00000173068
Associated Conditions (5)
Inborn genetic diseases
BNC2-related disorder
Lower Urinary Tract Obstruction
Lower urinary tract obstruction
congenital
Key Variants
RS116000575
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138000896
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144217211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146566771
Conflicting classifications of pathogenicity
Inborn genetic diseases, BNC2-related disorder, Inborn genetic diseases
Health Risk
RS752429719
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS774757602
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS79395563
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1350162888
Pathogenic
Lower Urinary Tract Obstruction, Lower urinary tract obstruction, congenital
Health Risk
RS1563774686
Pathogenic
Lower Urinary Tract Obstruction, Lower urinary tract obstruction, congenital
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116000575 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138000896 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144217211 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146566771 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, BNC2-related disorder, Inborn genetic diseases |
| RS752429719 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774757602 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS79395563 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1350162888 | Health Risk | Pathogenic | Lower Urinary Tract Obstruction, Lower urinary tract obstruction, congenital |
| RS1563774686 | Health Risk | Pathogenic | Lower Urinary Tract Obstruction, Lower urinary tract obstruction, congenital |