rs370242930

This is a variant in the RNF125 gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic
2 submitters1 publication

RNF125-related disorder; Tenorio syndrome (TNORS)

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About RNF125

This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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