rs138752269

This variant is located in the TRAF7 gene.

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ClinVar annotation

Likely Benign

1 submitter

TRAF7-related disorder

About TRAF7

Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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