Variant: rs771237928 

    present in Gene: NOTCH2
    present in Chromosome: 1
    Position on Chromosome: 119915813
    Alleles of this Variant: G/-;GG

rs771237928 in NOTCH2 gene and Hajdu-Cheney Syndrome PMID 21378989 2011 Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

PMID 8755249 1996 PEST sequences and regulation by proteolysis.

PMID 21378985 2011 Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

PMID 27312922 2016 End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.

rs771237928 in NOTCH2 gene and Monoclonal B-Cell Lymphocytosis PMID 22891273 2012 The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.

PMID 22891276 2012 Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.