Variant (rsID / SNP)

rs138156467

rs138156467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSF3R. Location: chromosome 1, position 36,933,759. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CSF3RPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:36933759
Cytoband: 1p34.3
HGVS: NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
Allele change: Nonsense_W547X

Associated conditions / phenotypes

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency|Inherited Immunodeficiency Diseases

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.