Variant: rs387907095 

    present in Gene: PRSS56
    present in Chromosome: 2
    Position on Chromosome: 232523492
    Alleles of this Variant: G/C

rs387907095 in PRSS56 gene and MICROPHTHALMIA, ISOLATED 6 PMID 21397065 2011 Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

PMID 21532570 2011 Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.

PMID 21850159 2011 Mutations in a novel serine protease PRSS56 in families with nanophthalmos.