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 618841; 615269; 614858; 615271; 615267; 614840; 610628; 614880; 614837; 614897; 244200; 614838; 612702; 616030; 612370; 147950; 615266; 308700; 615270
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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