rs797045021

This is a variant in the THOC2 gene that changes a isoleucine to an threonine.

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ClinVar annotation

Pathogenic
1 submitter2 publications

X-linked intellectual disability-short stature-overweight syndrome (MRXSK)

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About THOC2

The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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