Variant "ELANE:c.292G-A(p.V98M)"
Search result: 1 record
Variant information
Gene:
ELANE 
Variant:
ELANE:c.292G-A(p.V98M) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • 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