Variant (rsID / SNP)
rs55722931
rs55722931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEBPE. Location: chromosome 14, position 23,586,795. Clinical significance in the table: Benign.
Reference-table entries
CEBPEBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23586795
- Cytoband
- 14q11.2
- HGVS
- NM_001805.4(CEBPE):c.747C>T (p.Arg249=)
- Allele change
- Synonymous_R249R
Associated conditions / phenotypes
Specific granule deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.