Variant: rs1057520110 

    present in Gene: ELANE
    present in Chromosome: 19
    Position on Chromosome: 852978
    Alleles of this Variant: C/T

rs1057520110 in ELANE gene and Neutropenia, Severe Congenital, Autosomal Dominant 1 PMID 19415009 2009 Ela2 mutations and clinical manifestations in familial congenital neutropenia.

PMID 11675333 2001 Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.

PMID 19036076 2009 Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

PMID 20803142 2011 Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

PMID 23463630 2013 The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

PMID 21425445 2011 Four novel ELANE mutations in patients with congenital neutropenia.

PMID 18946670 2009 A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.

PMID 20220065 2010 Digenic mutations in severe congenital neutropenia.

PMID 19927291 2010 Pegfilgrastim in children with severe congenital neutropenia.

PMID 11001877 2000 Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

PMID 12091371 2002 Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.

PMID 14962902 2004 Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

PMID 17436313 2007 Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.