rs2544933640

This variant is located in the DYNC1I2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Neurodevelopmental disorder with microcephaly and structural brain anomalies

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About DYNC1I2

This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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