Gene entry
CSF3R
colony stimulating factor 3 receptor
- Chromosome
- 1
- Cytoband
- 1p34.3
- Variants (rsID)
- 12
CSF3R is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.3). Its official name is “colony stimulating factor 3 receptor”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs146617729Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to CSF3R deficiency
- rs3917981Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to CSF3R deficiency
- rs3917991Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to CSF3R deficiency
- rs3917996Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to CSF3R deficiency
- rs3918018Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to CSF3R deficiency
- rs78861150Benignsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to CSF3R deficiency
- rs138156467Pathogenicsingle nucleotide variantAutosomal recessive severe congenital neutropenia due to CSF3R deficiency|Inherited Immunodeficiency Diseases
- rs142999683Uncertain significancesingle nucleotide variantAutosomal recessive severe congenital neutropenia due to CSF3R deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.