rs387907095

This is a variant in the PRSS56 gene that changes a tryptophan to an serine.

ClinVar annotation

Pathogenic
1 submitter2 publications

Isolated microphthalmia 6

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About PRSS56

This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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