Variant "SNAP29:p.Gln106Arg"
Search result: 1 record
Variant information
Gene:
SNAP29 
Variant:
SNAP29:p.Gln106Arg 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered effect of disease causing mutation(1)  
Detail：
  • Target disease:
    Digeorge Syndrome (DOID_11198)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered effect of disease causing mutation 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    SNAP29 as a major modifier of variable expressivity in 22q11.2 DS patients.
    Reference:
    PMID23231787
    Title:
    Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
    Species studied:
    Human
    Abstract:
    22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder, affecting an estimated 1:2000-4000 live births. Patients with 22q11.2DS have a broad spectrum of phenotypic abnormalities which generally includes congenital cardiac abnormalities, palatal anomalies, and immunodeficiency. Additional findings, such as skeletal anomalies and autoimmune disorders, can confer significant morbidity in a subset of patients. 22q11.2DS is a contiguous gene DS and over 40 genes are deleted in patients; thus deletion of several genes within this region contributes to the clinical features. Mutations outside or on the remaining 22q11.2 allele are also known to modify the phenotype.