Gene "LOC101928278"
Found 2 records
Gene information
Gene symbol:
LOC101928278
See related:
Ensembl: , Gene ID:
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered onset time(2)  
Details：
  • Variant 1:
    LOC101928278:n.217905832A>G
    Gene:
    LOC101928278
    Genomic location:
    chr2:217905832
    dbSNP ID:
    rs13387042
    Target disease:
    Breast Cancer(DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Ten variants were found to be significantly associated with early onset cancer
    Reference:
    PMID26052370
    Title:
    Ten modifiers of BRCA1 penetrance validated in a Norwegian series.
    Species studied:
    Human
    Abstract:
    Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extreme age of onset of disease.
  • Variant 2:
    LOC101928278:n.217905832A>G
    Gene:
    LOC101928278
    Genomic location:
    chr2:217905832
    dbSNP ID:
    rs13387042
    Target disease:
    Ovarian Cancer(DOID_2394)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Ten variants were found to be significantly associated with early onset cancer
    Reference:
    PMID26052370
    Title:
    Ten modifiers of BRCA1 penetrance validated in a Norwegian series.
    Species studied:
    Human
    Abstract:
    Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extreme age of onset of disease.