Details for Combination OLI1263

VARIANTS SEMA3E:c.781G>A, p.Ala261Thr in Heterozygous form; WDR11:c.2962G>A, p.Glu988Lys in Heterozygous form
GENE COMBINATION SEMA3E; WDR11
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 146110; 614840; 612370; 614842; 615269; 606391; 614838; 615266; 613370; 609812; 308700; 244200; 125850; 125851; 147950; 614841; 606394; 610508; 614839; 616329; 612702; 614880; 614858; 615270; 600496; 614837; 606392; 613375; 616511; 610628; 612225
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

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.