Variant (rsID / SNP)

rs3917991

rs3917991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSF3R. Location: chromosome 1, position 36,934,805. Clinical significance in the table: Benign.

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Reference-table entries

CSF3RBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:36934805
Cytoband: 1p34.3
HGVS: NM_000760.4(CSF3R):c.1528G>C (p.Asp510His)
Allele change: Missense_D510H

Associated conditions / phenotypes

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.