rs1592332125
This variant is located in the SRGAP1 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
2 submitters3 publicationsCongenital anomaly of kidney and urinary tract; Congenital anomalies of kidney and urinary tract 1
View on ClinVar →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]
View all SRGAP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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