Variant: rs886037953 

    present in Gene: PPP1CB;SPDYA
    present in Chromosome: 2
    Position on Chromosome: 28793872
    Alleles of this Variant: G/T

rs886037953 in PPP1CB;SPDYA gene and NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 PMID 28211982 2017 The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

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.