Variant: rs121908939 

    present in Gene: DNMT3B
    present in Chromosome: 20
    Position on Chromosome: 32807791
    Alleles of this Variant: A/G

rs121908939 in DNMT3B gene and IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 27734333 2016 A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

PMID 21120685 2011 ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.

PMID 15580563 2005 DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

PMID 11102980 2000 Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

PMID 10588719 1999 The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.