Variant: rs267606919 

    present in Gene: NPHS1
    present in Chromosome: 19
    Position on Chromosome: 35831056
    Alleles of this Variant: G/A

rs267606919 in NPHS1 gene and Finnish congenital nephrotic syndrome PMID 9915943 1999 Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

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

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

PMID 14570703 2003 Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.

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

PMID 11854170 2002 Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

PMID 16518627 2006 Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.

rs267606919 in NPHS1 gene and Nephrotic Syndrome PMID 16518627 2006 Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.

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

PMID 11854170 2002 Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.