Variant: rs121434390 

    present in Gene: TRPC6
    present in Chromosome: 11
    Position on Chromosome: 101504634
    Alleles of this Variant: G/T

rs121434390 in TRPC6 gene and FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 PMID 15924139 2005 TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.

PMID 19458060 2009 TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

PMID 20798252 2010 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

PMID 19936226 2009 A novel TRPC6 mutation that causes childhood FSGS.

PMID 15879175 2005 A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.

PMID 23014460 2013 Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

PMID 21734084 2011 TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

PMID 26892346 2016 TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

PMID 23291369 2013 New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

PMID 22732337 2012 Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

PMID 21511817 2012 TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.