rs199760053

This variant is located in the PLEKHO1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About PLEKHO1

Predicted to be involved in regulation of myoblast fusion. Predicted to act upstream of or within several processes, including lamellipodium morphogenesis; myoblast fusion; and myoblast migration. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in muscle cell projection membrane and ruffle membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all PLEKHO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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