Details for Combination OLI1165

VARIANTS WDR11:c.2146A>G, p.Ile716Val in Heterozygous form; GNRHR:c.317A>G, p.Gln106Arg in Heterozygous form; GNRHR:c.453C>T, p.Ser151= in Heterozygous form
GENE COMBINATION GNRHR; WDR11
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615269; 618841; 244200; 615267; 614880; 614837; 615270; 612702; 614838; 615271; 614840; 615266; 616030; 147950; 610628; 612370; 614858; 308700; 614897
DISEASES Kallmann syndrome
REFERENCES 34198905
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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