rs370916968

This is a variant in the CRADD gene that changes a phenylalanine to an cysteine.

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ClinVar annotation

Pathogenic
2 submitters2 publications

Intellectual disability, autosomal recessive 34 (MRT34)

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About CRADD

This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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