Details for Combination OLI256

VARIANTS NPHS1:c.563A>T, p.Asn188Ile in Heterozygous form; NPHS2:c.436delA, p.Arg146GlufsTer35 in Homozygous form
GENE COMBINATION NPHS1; NPHS2
OLIGOGENIC EFFECT Unknown
ETHNICITY Indian
OMIM IDS 256300
DISEASES Congenital nephrotic syndrome
REFERENCES 11854170
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2323

VAR
manualknowledgemeta
000

FUN
manualmeta
01

FINAL
manualmeta
00


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