Details for Combination OLI1652

VARIANTS CHD7:c.2750C>T, p.Thr917Met in Heterozygous form; FLRT3:c.1106C>T, p.Ala369Val in Heterozygous form
GENE COMBINATION CHD7; FLRT3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612702; 614838; 615267; 615270; 147950; 614840; 618841; 610628; 615269; 308700; 614858; 616030; 614880; 615266; 612370; 244200; 614837; 614897; 615271
DISEASES Kallmann syndrome
REFERENCES 37108593
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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