rs1572671568
This variant is located in the TTC7A gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationMultiple gastrointestinal atresias
View on ClinVar →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]
View all TTC7A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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