Variant: rs201765587 

    present in Gene: PARN
    present in Chromosome: 16
    Position on Chromosome: 14627161
    Alleles of this Variant: T/A;C

rs201765587 in PARN gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 PMID 31448843 2019 From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.