rs1055443730

This variant is located in the TSC2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

Tuberous sclerosis 2; Hereditary cancer-predisposing syndrome

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About TSC2

This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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