Details for Combination OLI321

VARIANTS NPHS2:c.413G>A, p.Arg138Gln in Heterozygous form; NPHS1:c.791C>G, p.Pro264Arg in Heterozygous form; NPHS2:c.948delT, p.Ala317LeufsTer31 in Heterozygous form
GENE COMBINATION NPHS1; NPHS2
OLIGOGENIC EFFECT Unknown
ETHNICITY Caucasian
OMIM IDS 251220; 615861; 301028; 619201; 616730; 256370; 607832; 616892; 616893; 618178; 616002; 616032; 618176; 603278; 615244; 614131; 600995; 603965; 618179; 613237; 612551; 618177; 616220; 614196; 610725; 615573
DISEASES Genetic steroid-resistant nephrotic syndrome
REFERENCES 18443213
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1323

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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