rs200354688

This variant is located in the LAPTM4B gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About LAPTM4B

Enables ceramide binding activity; enzyme binding activity; and phosphatidylinositol bisphosphate binding activity. Involved in several processes, including endosome transport via multivesicular body sorting pathway; negative regulation of macromolecule metabolic process; and regulation of lysosomal membrane permeability. Located in several cellular components, including endosome; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all LAPTM4B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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