rs398123030

This is a variant in the BICD2 gene that changes a glutamate to an glycine.

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ClinVar annotation

Pathogenic★☆☆☆

3 submitters2 publications

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (SMALED2A)

About BICD2

This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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