Details for Combination OLI370

VARIANTS SPRY4:c.722C>A, p.Ser241Tyr in Heterozygous form; DUSP6:c.1037C>T, p.Thr346Met in Heterozygous form
GENE COMBINATION DUSP6; SPRY4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 614838; 615270; 614837; 612702; 610628; 614880; 615267; 147950; 615271; 614897; 614840; 615269; 244200; 612370; 308700; 616030; 614858; 615266; 618841
DISEASES Kallmann syndrome
REFERENCES 23643382
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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