Details for Combination OLI1160

VARIANTS CHD7:c.2548A>C, p.Lys850Gln in Heterozygous form; LHX4:c.913G>T, p.Gly305Trp in Heterozygous form
GENE COMBINATION CHD7; LHX4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612702; 614858; 308700; 614897; 618841; 244200; 615270; 616030; 610628; 147950; 615269; 614838; 614880; 615266; 612370; 615267; 614840; 615271; 614837
DISEASES Kallmann syndrome
REFERENCES 34198905
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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