Details for Combination OLI501

VARIANTS NPHS2:c.413G>A, p.Arg138Gln in Homozygous form; NPHS1:c.275-2A>C, in Heterozygous form
GENE COMBINATION NPHS1; NPHS2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
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 15253708
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3323

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.