Details for Combination OLI1105

VARIANTS LHB:c.364G>A, p.Gly122Ser in Heterozygous form; FGFR1:c.1211delT, p.Leu404ArgfsTer27 in Heterozygous form
GENE COMBINATION FGFR1; LHB
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
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 34348883
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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