Variant: rs1114167429 

    present in Gene: PPP1CB
    present in Chromosome: 2
    Position on Chromosome: 28776964
    Alleles of this Variant: G/C

rs1114167429 in PPP1CB gene and NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 PMID 27681385 2016 De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

PMID 30368668 2019 Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

PMID 27868344 2017 Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.

PMID 27264673 2016 A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

PMID 28211982 2017 The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.