rs2513225123

This variant is located in the PLVAP gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

About PLVAP

Predicted to enable identical protein binding activity. Involved in MAPK cascade; positive regulation of cellular extravasation; and tumor necrosis factor-mediated signaling pathway. Located in caveola and cell surface. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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