Details for Combination OLI1113

VARIANTS CHD7:c.4549_4563del, p.Ser1517_Thr1521del in Heterozygous form; SEMA3E:c.760G>C, p.Glu254Gln in Heterozygous form
GENE COMBINATION CHD7; SEMA3E
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615269; 618841; 244200; 615267; 614880; 614837; 615270; 612702; 614838; 615271; 614840; 615266; 616030; 147950; 610628; 612370; 614858; 308700; 614897
DISEASES Kallmann syndrome; CHARGE 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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