Variant: rs139598219 

    present in Gene: NPHS1;KIRREL2
    present in Chromosome: 19
    Position on Chromosome: 35850407
    Alleles of this Variant: C/A;T

rs139598219 in NPHS1;KIRREL2 gene and Finnish congenital nephrotic syndrome PMID 21672106 2012 Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type.

PMID 11726550 2001 Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

PMID 9660941 1998 Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

PMID 18503012 2008 Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

PMID 18614772 2008 Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

PMID 17290294 2007 A familial childhood-onset relapsing nephrotic syndrome.

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

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

PMID 10652016 2000 Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.

PMID 20172850 2010 Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

PMID 11317351 2001 Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

PMID 22009864 2011 Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.

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

PMID 26560236 2016 NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.

PMID 25804400 2015 SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

PMID 9915943 1999 Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.