rs147914967

This is a variant in the TTC7A gene that changes a glutamate to an lysine.

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ClinVar annotation

Pathogenic★☆☆☆
6 submitters10 publications

Gastrointestinal defect and immunodeficiency syndrome; Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1); Multiple gastrointestinal atresias

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About TTC7A

This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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