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Variant (rsID / SNP)

rs137854448

ELANE

rs137854448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELANE. Location: chromosome 19, position 855,613. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ELANEPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:855613
Cytoband
19p13.3
HGVS
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
Allele change
Missense_P139L

Associated conditions / phenotypes

Neutropenia, severe congenital, 1, autosomal dominant|Neutropenia, severe congenital, 1, autosomal dominant|Cyclical neutropenia

Public references

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