Details for Combination OLI1653

VARIANTS CHD7:c.7891C>T, p.Arg2631Ter in Heterozygous form; CCDC103:c.461A>C, p.His154Pro in Heterozygous form
GENE COMBINATION CCDC103; CHD7
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615269; 618841; 244200; 615267; 614880; 614837; 615270; 612702; 614838; 615271; 614840; 615266; 616030; 147950; 610628; 612370; 614858; 308700; 614897
DISEASES Kallmann syndrome
REFERENCES 37108593
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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