Variant "GRIN2B:c.*409T>G"
Search result: 1 record
Variant information
Gene:
GRIN2B 
Variant:
GRIN2B:c.*409T>G 
Genomic location:
chr12:13715308(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000834.3:c.*409T>G
dbSNP ID:
rs890  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Target disease:
    Huntington's Disease (DOID_12858)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Polymorphisms in the genes affect the age at onset of Huntington disease in Tunisian patients
    Reference:
    PMID25254119
    Title:
    Modulation at age of onset in tunisian huntington disease patients: implication of new modifier genes.
    Species studied:
    Human
    Abstract:
    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO) of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.