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 600995; 615244; 618179; 301028; 615861; 603278; 603965; 616893; 618177; 616002; 616892; 613237; 251220; 614196; 616032; 619201; 614131; 612551; 615573; 618178; 618176; 610725; 607832; 256370; 616220; 616730
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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