rs376971794

This variant is located in the TFG gene.

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ClinVar annotation

Conflicting Classifications

9 submitters6 publications

Hereditary spastic paraplegia 57;Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57; Inborn genetic diseases; not provided; TFG-related disorder; Hereditary motor and sensory neuropathy, Okinawa type

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About TFG

There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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