Variant: rs147914967 

    present in Gene: TTC7A
    present in Chromosome: 2
    Position on Chromosome: 46950389
    Alleles of this Variant: G/A

rs147914967 in TTC7A gene and Multiple gastrointestinal atresias (disorder) PMID 25745186 2015 Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.

PMID 23423984 2013 Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

PMID 24931897 2014 Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

PMID 25534311 2015 Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

PMID 24292712 2014 TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

PMID 24417819 2014 Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

PMID 23830146 2013 Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

PMID 25546680 2014 Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.