rs748283757

This variant is located in the SYNPO2L gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SYNPO2L

Predicted to enable actin binding activity. Predicted to be involved in several processes, including positive regulation of Rho protein signal transduction; positive regulation of stress fiber assembly; and sarcomere organization. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in Z disc; actin cytoskeleton; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all SYNPO2L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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