Gene "CDKN2B-AS1"
Found 1 record
Gene information
Gene symbol:
CDKN2B-AS1
See related:
Ensembl: ENSG00000240498, Gene ID: 100048912
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered gene activity(1)  
Detail：
  • Variant 1:
    CDKN2B-AS1:n.846+1734G>A
    Gene:
    CDKN2B-AS1
    Genomic location:
    chr9:22034719
    dbSNP ID:
    rs2151280
    Target disease:
    Neurofibromas(HP:0001067)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered gene activity 
    Evidence:
    P<0.001 
    Effect:
    The allele T of rs2151280 was statistically significantly associated with reduced ANRIL transcript levels (P < 0.001), suggesting that modulation of ANRIL expression mediates PNF susceptibility.
    Reference:
    PMID22034633
    Title:
    Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.
    Species studied:
    Human
    Abstract:
    Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome with a worldwide birth incidence of one in 2500. Genetic factors unrelated to the NF1 locus are thought to influence the number of plexiform neurofibromas (PNFs) in patients with NF1, but no factors have been identified to date.