rs532630414

This variant is located in the ASPM gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Inborn genetic diseases; not provided

About ASPM

This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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