rs374533080

This variant is located in the ARHGAP42 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About ARHGAP42

This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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