Details for Combination OLI815

VARIANTS SPRY4:c.46G>A, p.Val16Ile in Heterozygous form; SEMA3A:c.1457C>T, p.Pro486Leu in Heterozygous form
GENE COMBINATION SEMA3A; SPRY4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612702; 614858; 308700; 614897; 618841; 244200; 615270; 616030; 610628; 147950; 615269; 614838; 614880; 615266; 612370; 615267; 614840; 615271; 614837
DISEASES Kallmann syndrome
REFERENCES 30921766
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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