rs121918161

This is a stop gained variant in the RNF135 gene.

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ClinVar annotation

Uncertain Significance
1 submitter4 publications

Macrocephaly, macrosomia, facial dysmorphism syndrome

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About RNF135

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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