rs1114167282

This variant is located in the ARHGAP29 gene.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Nonsyndromic cleft lip with or without cleft palate

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About ARHGAP29

Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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