Variant: rs140511594 

    present in Gene: TTC21B;TTC21B-AS1
    present in Chromosome: 2
    Position on Chromosome: 165941111
    Alleles of this Variant: G/A

rs140511594 in TTC21B;TTC21B-AS1 gene and Hepatic Fibrosis, Congenital PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

PMID 26940125 2017 Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

rs140511594 in TTC21B;TTC21B-AS1 gene and Jeune thoracic dystrophy PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

rs140511594 in TTC21B;TTC21B-AS1 gene and NEPHRONOPHTHISIS 12 PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

PMID 26940125 2017 Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

rs140511594 in TTC21B;TTC21B-AS1 gene and Nephronophthisis PMID 24876116 2014 Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation.

PMID 21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

rs140511594 in TTC21B;TTC21B-AS1 gene and Renal cyst PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

PMID 26940125 2017 Contribution of the TTC21B gene to glomerular and cystic kidney diseases.