rs74703359

This is a variant in the PRSS56 gene that changes a valine to an phenylalanine.

ClinVar annotation

Uncertain Significance★★★
6 submitters3 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]

View all PRSS56 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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