Variant "CD40:c.-1T>C"
Search result: 1 record
Variant information
Gene:
CD40 
Variant:
CD40:c.-1T>C 
Genomic location:
chr20:44746982(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001322421.1:c.-1T>C
protein_coding NM_001250.5:c.-1T>C
protein_coding NM_001302753.1:c.-1T>C
protein_coding NM_001322422.1:c.-1T>C
protein_coding NM_152854.3:c.-1T>C
pseudogene NR_126502.1:n.90T>C
pseudogene NR_136327.1:n.90T>C
show all
dbSNP ID:
rs1883832  
GWAS trait:
ankylosing spondylitis,psoriasis,ulcerative colitis,Crohn's disease,sclerosing cholangitis,chronic hepatitis B infection,rheumatoid arthritis 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Target disease:
    Muscular Dystrophy (DOID_9884)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    From review article 
    Effect:
    A SNP at rs1883832 of the CD40 gene is predictive of the age at loss of ambulation
    Reference:
    PMID28877560
    Title:
    Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.
    Species studied:
    Human
    Abstract:
    Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes, including age of loss of ambulation, steroid responsiveness, and the presence or absence of cardiac defects in patients with the same form of muscular dystrophy. This review highlights recent findings on genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies based on animal and clinical studies. These genetic modifiers hold great promise to be developed into novel therapeutic targets for the treatment of muscular dystrophies. Muscle Nerve 57: 6-15, 2018.