rs587777175

This is a variant in the TFG gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic★☆☆☆
6 submitters6 publications

Hereditary motor and sensory neuropathy, Okinawa type (HMSNO); Hereditary spastic paraplegia 57; Inborn genetic diseases

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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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