rs775101764

This variant is located in the SERPINF1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

not provided; Inborn genetic diseases

About SERPINF1

This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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