rs1037828930

This is a stop gained variant in the INTU gene.

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ClinVar annotation

Pathogenic★☆☆☆

3 submitters2 publications

Short rib-polydactyly syndrome; Short-rib thoracic dysplasia 20 with polydactyly

About INTU

Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in several cellular components, including ciliary basal body; cytosol; and motile cilium. Implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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