Details for Combination OLI320

VARIANTS NPHS2:c.622G>A, p.Ala208Thr in Heterozygous form; CD2AP:c.1488G>A, p.Met496Ile in Heterozygous form
GENE COMBINATION CD2AP; NPHS2
OLIGOGENIC EFFECT True Digenic
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
2

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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