Variant "CELF1:c.*330C>T"
Search result: 1 record
Variant information
Gene:
CELF1 
Variant:
CELF1:c.*330C>T 
Genomic location:
chr11:47376448(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001080547.1:c.*330C>T
protein_coding NM_003120.2:c.*330C>T
protein_coding NM_000256.3:c.-2250C>T
dbSNP ID:
rs1057233  
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:
    Alzheimer's Disease (DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    From review article 
    Effect:
    rs1057233 G allele is associated with a later age of disease onset for AD
    Reference:
    PMID29977663
    Title:
    Genetic Modifiers in Neurodegeneration.
    Species studied:
    Human
    Abstract:
    To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disease (PD).