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rs386833919

From SNPedia

ClinVar
Risk rs386833919(;)
Alt rs386833919(;)
Reference rs386833919(CTGCAGCTGG;CTGCAGCTGG)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333132_36333141delCAGCTGCAGC
CLNSRC ClinVar
CLNACC RCV000049893.1,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.