Details for Combination OLI1172

VARIANTS LHX4:c.384C>T, p.Asp128= in Heterozygous form; CHD7:c.307T>A, p.Ser103Thr in Heterozygous form
GENE COMBINATION CHD7; LHX4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 618841; 614897; 615266; 615270; 244200; 615269; 614880; 616030; 614837; 614838; 614858; 308700; 612370; 610628; 615267; 612702; 615271; 614840; 147950
DISEASES Kallmann syndrome
REFERENCES 34198905
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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