Details for Combination OLI1270

VARIANTS CHD7:c.1397C>T, p.Ser466Leu in Heterozygous form; PROKR2:c.518T>G, p.Leu173Arg in Heterozygous form; WDR11:c.3319G>A, p.Asp1107Asn in Heterozygous form
GENE COMBINATION CHD7; PROKR2; WDR11
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
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 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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