Variant: rs1490010141 

    present in Gene: NPHS2;AXDND1
    present in Chromosome: 1
    Position on Chromosome: 179552614
    Alleles of this Variant: C/T

rs1490010141 in NPHS2;AXDND1 gene and Idiopathic Nephrotic Syndrome PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

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

PMID 24509478 2014 Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

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

PMID 19145239 2009 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

rs1490010141 in NPHS2;AXDND1 gene and NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE PMID 20947785 2011 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

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

PMID 25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

PMID 19145239 2009 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

PMID 24509478 2014 Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.