Variant (rsID / SNP)
rs78861150
rs78861150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSF3R. Location: chromosome 1, position 36,932,272. Clinical significance in the table: Benign.
Reference-table entries
CSF3RBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:36932272
- Cytoband
- 1p34.3
- HGVS
- NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr)
- Allele change
- Missense_P733T
Associated conditions / phenotypes
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.