Variant: rs1214047676 

    present in Gene: AXDND1;NPHS2
    present in Chromosome: 1
    Position on Chromosome: 179551304
    Alleles of this Variant: G/A

rs1214047676 in AXDND1;NPHS2 gene and Idiopathic Nephrotic Syndrome PMID 26420286 2015 NPHS2 mutations account for only 15% of nephrotic syndrome cases.

PMID 22565185 2012 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

PMID 24072147 2013 NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

PMID 23242530 2013 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

PMID 17899208 2007 NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

PMID 23800802 2013 NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

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

PMID 10742096 2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

PMID 20947785 2011 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

PMID 24227627 2014 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

PMID 15253708 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

PMID 12464671 2002 NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

PMID 22578956 2012 Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.

PMID 23913389 2013 Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.