rs1302797003

This variant is located in the CRBN gene.

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ClinVar annotation

Pathogenic★★★☆

2 submitters1 publication

Intellectual disability, autosomal recessive 2; not provided

About CRBN

This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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