rs377750338

This variant is located in the NUMA1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About NUMA1

This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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