rs934443026

This variant is located in the THOC6 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Inborn genetic diseases

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About THOC6

This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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