Details for Combination OLI392

VARIANTS FGFR1:c.1755C>A, p.Tyr585Ter in Heterozygous form; TACR3:c.1091G>A, p.Arg364Gln in Heterozygous form
GENE COMBINATION FGFR1; TACR3
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
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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