Details for Combination OLI835

VARIANTS FGFR1:c.1704+1G>A, in Heterozygous form; SPRY4:c.88C>T, p.Arg30Trp in Heterozygous form
GENE COMBINATION FGFR1; SPRY4
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
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 28833369; 35669683
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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