rs2536523353

This variant is located in the STMN2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About STMN2

This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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