Gene "ELANE"
Found 1 record
Gene information
Gene symbol:
ELANE
See related:
Ensembl: ENSG00000197561, Gene ID: 1991
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    ELANE:c.292G-A(p.V98M)
    Gene:
    ELANE
    Genomic location:
    dbSNP ID:
    Target disease:
    Severe congenital neutropenia(DOID_0050590)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Pedigree analysis 
    Effect:
    modify the phenotype
    Reference:
    PMID19594744
    Title:
    Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene.
    Species studied:
    Human
    Abstract:
    No data