Variant "BDNF:c.748G>T(p.Glu168*)"
Search result: 1 record
Variant information
Gene:
BDNF 
Variant:
BDNF:c.748G>T(p.Glu168*) 
HGVS:
SO Term RefSeq
protein_coding NM_001143810.1:c.748G>T(p.Glu250*)
protein_coding NM_001143809.1:c.589G>T(p.Glu197*)
protein_coding NM_170734.3:c.547G>T(p.Glu183*)
protein_coding NM_170731.4:c.526G>T(p.Glu176*)
protein_coding NM_001143816.1:c.502G>T(p.Glu168*)
protein_coding NM_170735.5:c.502G>T(p.Glu168*)
protein_coding NM_001143813.1:c.502G>T(p.Glu168*)
protein_coding NM_001143814.1:c.502G>T(p.Glu168*)
protein_coding NM_001709.4:c.502G>T(p.Glu168*)
protein_coding NM_001143812.1:c.502G>T(p.Glu168*)
protein_coding NM_001143808.1:c.502G>T(p.Glu168*)
protein_coding NM_001143811.1:c.502G>T(p.Glu168*)
protein_coding NM_170733.3:c.502G>T(p.Glu168*)
protein_coding NM_001143807.1:c.502G>T(p.Glu168*)
protein_coding NM_001143805.1:c.502G>T(p.Glu168*)
protein_coding NM_001143806.1:c.502G>T(p.Glu168*)
protein_coding NM_170732.4:c.502G>T(p.Glu168*)
protein_coding NM_001143810.1:c.748G>T
protein_coding NM_170731.4:c.526G>T
protein_coding NM_170734.3:c.547G>T
pseudogene NR_002832.2:n.375-178C>A
pseudogene NR_033314.1:n.375-178C>A
pseudogene NR_033312.1:n.306-178C>A
pseudogene NR_033313.1:n.306-178C>A
pseudogene NR_033315.1:n.306-178C>A
show all
dbSNP ID:
rs1554931219  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Rett Syndrome (DOID_1206)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=5.3, 95% CI: 1.6-17.7 
    Effect:
    Individuals with the p.R168X mutation and heterozygous for the BDNF polymorphism were also at an increased risk of seizure onset
    Reference:
    PMID19349604
    Title:
    The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome.
    Species studied:
    Human
    Abstract:
    Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). Brain-derived neurotrophic factor (BDNF) is a neurotrophic factor playing a major role in neuronal survival, neurogenesis, and plasticity, and it has been shown that BDNF expression is regulated by MeCP2 through a complex interaction. A common polymorphism of BDNF (Val66Met [p.V66M]) has been found to correlate with severity and course of several neuropsychiatric disorders.