rs769651861

This variant is located in the TRAF3IP1 gene.

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ClinVar annotation

Pathogenic
2 submitters1 publication

Short-rib thoracic dysplasia 6 with or without polydactyly

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About TRAF3IP1

The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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