rs587751643

This variant is located in the SRGAP2C gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

About SRGAP2C

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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