rs2508714004

This variant is located in the EFTUD2 gene.

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ClinVar annotation

Pathogenic★★★☆
2 submitters1 publication

not provided; Mandibulofacial dysostosis-microcephaly syndrome

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About EFTUD2

This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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