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 614838; 308700; 614837; 147950; 618841; 612370; 615266; 615270; 615271; 614897; 616030; 614858; 610628; 614880; 244200; 615269; 615267; 614840; 612702
DISEASES Kallmann syndrome
REFERENCES 34198905
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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