rs797044990

This is a variant in the SRGAP1 gene that changes a alanine to an threonine.

ClinVar annotation

Pathogenic
1 submitter1 publication

Thyroid cancer, nonmedullary, 2 (NMTC2)

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About SRGAP1

The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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