Details for Combination OLI1650

VARIANTS IL17RD:c.960G>A, p.Met320Ile in Heterozygous form; FGF17:c.208G>A, p.Gly70Arg in Heterozygous form
GENE COMBINATION FGF17; IL17RD
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612370; 614897; 614837; 615269; 147950; 614838; 614858; 308700; 244200; 612702; 614880; 615271; 616030; 610628; 615267; 615270; 618841; 614840; 615266
DISEASES Kallmann syndrome
REFERENCES 37108593
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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