CSF3R Chromosome 1
Colony stimulating factor 3 receptor
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What This Gene Does
The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000119535
Associated Conditions (9)
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Hereditary neutrophilia
CSF3R-related disorder
Inborn genetic diseases
Severe congenital neutropenia
Inherited Immunodeficiency Diseases
CSF3R-Related Disorders
Early T cell progenitor acute lymphoblastic leukemia
Neoplasm
Key Variants
RS116118817
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS121918426
Conflicting classifications of pathogenicity
Hereditary neutrophilia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder
Health Risk
RS1287134931
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS139332126
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS139705992
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS141619366
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS141729889
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inborn genetic diseases, CSF3R-related disorder
Health Risk
RS1447131096
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS147532578
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS148104401
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS148307285
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
RS1650332196
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2521795034 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS2521827233 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS374536805 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS606231474 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS606231475 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS747437399 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS757401069 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS759302795 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS765536522 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS767251022 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS767458386 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS890101650 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS138156467 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inherited Immunodeficiency Diseases, Hereditary neutrophilia |
| RS1650834071 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Hereditary neutrophilia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS606231473 | Health Risk | Pathogenic/Likely pathogenic | Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Severe congenital neutropenia |
| RS756667927 | Health Risk | Pathogenic/Likely pathogenic | Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Severe congenital neutropenia |
| RS796065343 | Health Risk | Pathogenic/Likely pathogenic | Early T cell progenitor acute lymphoblastic leukemia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Neoplasm |
| RS992318824 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |