rs147499593

This variant is located in the TRAPPC9 gene.

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ClinVar annotation

Conflicting Classifications
6 submitters2 publications

not specified; Intellectual disability, autosomal recessive 13; not provided; Inborn genetic diseases; TRAPPC9-related disorder

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About TRAPPC9

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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