Variant (rsID / SNP)

rs141903485

rs141903485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEBPE. Location: chromosome 14, position 23,587,838. Clinical significance in the table: Benign.

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Reference-table entries

CEBPEBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:23587838
Cytoband: 14q11.2
HGVS: NM_001805.4(CEBPE):c.463C>A (p.Leu155Met)
Allele change: Missense_L155M

Associated conditions / phenotypes

Specific granule 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.