Variant: rs121908941 

    present in Gene: DNMT3B
    present in Chromosome: 20
    Position on Chromosome: 32802416
    Alleles of this Variant: T/G

rs121908941 in DNMT3B gene and IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 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 10588719 1999 The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

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

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

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

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

PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

rs121908941 in DNMT3B gene and Immunodeficiency syndrome, variable PMID 16543361 2006 Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.

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

PMID 17893117 2008 Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

PMID 23486536 2013 Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

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

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

PMID 11741835 2001 DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.