Variant: rs1554298082 

    present in Gene: PMS2
    present in Chromosome: 7
    Position on Chromosome: 5987601
    Alleles of this Variant: A/-

rs1554298082 in PMS2 gene and Neoplastic Syndromes, Hereditary PMID 23629955 2013 Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

PMID 25691505 2015 A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

rs1554298082 in PMS2 gene and Turcot syndrome (disorder) PMID 23629955 2013 Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.