Variant: rs121918378 

    present in Gene: PYCR1
    present in Chromosome: 17
    Position on Chromosome: 81934371
    Alleles of this Variant: C/T

rs121918378 in PYCR1 gene and CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB PMID 22052856 2011 Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.